Shift 1: Wednesday 24 October from 12:00 until Thursday 25 October, 19:00

Posters can be mounted from 08:00 on Wednesday 24 October and must be removed by the end of sessions on

Thursday 25th.

IPOPI

Poster Board Number

A SURVEY OF CANADIAN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASE W. Goulstone, E. Tough (Canada)

001

PID GENIUS: A MOBILE APPLICATION BY PATIENTS FOR PATIENTS. PERSONAL ASSISTANT FOR PATIENTS WITH A PRIMARY IMMUNODEFICIENCY M. Pergent, L. Solis, J. Prevot, S. Kiema (France)

002

PRIMARY IMMUNODEFICIENCY (PI): CHRONIC AND RARE DISEASE BETWEEN DISTRESS AND RESILIENCE. A CASE REPORT A. Trizzino, S. Battiato, A. Trizzino, C. Mosa, E. Sanfratello, C. Taormina, P. D'Angelo (Italy)

003

INGID

Poster Board Number

DEVELOPING A MODEL FOR IMMUNOLOGY RESEARCH SUPPORT E. Carne, G. Rasul, C. Price (United Kingdom)

004

TRANSITIONING FROM IVIG TO SCIG: A PRIMARY IMMUNODEFICIENCY (PID) PATIENT’S PERSPECTIVE C. Collins, R. Dring, T. Allen, C. Slade, J.A. Douglass (Australia)

005

A MULTI-CENTRE QUALITATIVE STUDY TO EXPLORE EXPERIENCES OF INDIVIDUALS LIVING WITH SECONDARY IMMUNODEFICIENCY WHO RECEIVE SUBCUTANEOUS IMMUNOGLOBULIN THERPAY K. Henderson (United Kingdom)

006

IV IG REACTIONS IN 47 PATIENTS OF PRIMARY IMMUNODEFICIENCY Z. Poursheikhi (Iran)

007

BEST TREATMENT FOR AN AUTISITIC PATIENT TRANSITIONING TO ADULT SERVICES G. Rasul, E. Carne (United Kingdom)

008

INTEGRATED CARE PROGRAM FOR CHILDREN WITH PRIMARY IMMUNODEFICIENCY. THE “I'M NOT ALONE" PROJECT S. Ridao Manonellas, A. Fábregas Bofill, M. García Prat, J.G. Rivière, A. Martín-Nalda, P. Soler-Palacín (Spain)

009

EXPERIENCE IN SWITCHING TO REPLACEMENT WITH FACILITATED SUBCUTANEOUS IMMUNOGLOBULINS IN A TERTIARY HOSPITAL FROM CANTABRIA (NORTHERN SPAIN) C. Salcedo, B. Mallagaray Saavedra, J.G. Ocejo-Vinyals, M. López Hoyos (Spain)

010

NURSING-CARE IN PRIMARY IMMUNODEFICIENCIES DURING TRANSITIONAL CARE: AN AUDIT ABOUT THE PATIENTS’ EXPERIENCE M. Tabini, D. Bellotta, S. Orlando, G. Fabio, M. Carrabba (Italy)

011

REPLACEMENT THERAPY WITH SUBCUTANEOUS IMMUNOGLOBULINS: THE NEEDING OF A PERIODIC RE-TRAINING TO THERAPY M. Tabini, D. Bellotta, S. Orlando, G. Fabio, M. Carrabba (Italy)

012

PREVALENCE AND IMPACT OF FATIGUE IN PEDIATRIC PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISORDERS (FATPID STUDY): A QUANTITATIVE SINGLE CENTER PILOT STUDY E. Visser, L. Van der Knaap, K. Stol, A. Van Rossum, P. Fraaij, C. Vermont (The Netherlands)

013

IMPACT OF FSCIG REPLACEMENT THERAPY IN PATIENTS’ DAILY LIFE E. Zaimaki, P. Giannakopoulou, S. Tantou, A.M. Tsilia, M. Tzanoudaki, M. Kanariou (Greece)

014

B CELL BIOLOGY

Poster Board Number

INFECTIOUS AND NON-INFECTIOUS RESPIRATORY COMPLICATIONS IN PATIENTS WITH MONOGENIC HYPER IGM SYNDROME H. Abolhassani, R. Yazdani, A. Gholamreza, L. Hammarström, A. Aghamohamamdi (Sweden)

015

COMMON VARIABLE IMMUNODEFICIENCY (CVID) WITH HEMOLYTIC UREMIC SYNDROME (HUS) A. Alqahtani (Saudi Arabia)

016

ASSESSING THE PREVALENCE OF CLASS SWITCHED MEMORY B CELLS IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY TO DETERMINE THE PROGNOSIS OF NON-INFECTIOUS COMPLICATIONS Z. Alsarraf, T. Garcez, S. Elkhalifa, J. Edmonds (United Kingdom)

017

A RARE IMMUNODEFICIENCY CASE DIAGNOSED AS GOOD SYNDROME Ş. Beyaz, C. Tuzer, B. Ince, N. Paksoy, R. Coskun, A. Gelincik, S. Buyukozturk, B. Çolakoglu (Turkey)

018

PERSISTENT PARVOVIRAL INFECTION WITH B-CELL AND T-CELL ABNORMALITY: COULD IT BE A CASE OF COMMON VARIABLE IMMUNODEFICIENCY? D. Bhattarai, P. Vignesh, D. Suri, A. Gupta, A. Rawat, Y. Ogula, K. Imai, S. Nonoyama, S. Singh (India)

019

A MOUSE MODEL FOR HUMAN CVID CAUSED BY A POINT MUTATION IN IKAROS B. Boast, L. Miosge, Y. Sontani, H.S. Kuehn, S.D. Rosenzweig, C.C. Goodnow, A. Enders (Australia)

020

GOOD'S SYNDROME PRESENTED BY RECURRENT PNEUMONIAS – CASE REPORT A. Bobcakova, R. Vysehradsky, M. Jesenak (Slovak Republic)

021

SUBACUTE SCLEROSING PANENCEPHALITIS OCCURRING IN A PATIENT PREVIOUSLY MEASLES-VACCINATED WITH HYPOGAMMAGLOBULINAEMIA INDUCED BY RITUXIMAB M. De Luca, P. Zangari, O. Genovese, F. Conti, P. D'Argenio, C. Cifaldi, G. Di Matteo, S. Di Cesare, A. Finocchi, C. Cancrini (Italy)

022

DEFECTS IN PERIPHERAL B-LYMPHOCYTE MATURATION IN CHILDREN WITH CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE SYNDROM) N. Davydova, M. Gordukova, A. Smirnova, O. Shvez, N. Zinovieva, S. Zimin, O. Barabanova, I. Korsunskiy, A. Prodeus, I. Kozlov (Russia)

023

NEW PRIMARY IMMUNODEFICIENCIES: A CASE OF ATP6AP1 DEFICIENCY DIAGNOSED WITH WHOLE EXOME SEQUENCING (WES) L.A. Baselli, M. Cazzaniga, L. Dell'Era, C. Barsalini, M. Iascone, R.M. Dellepiane, A. Selicorni (Italy)

024

ROLE OF UMBILICAL CORD BLOOD BREG CELLS IN ANTIMYCOBACTERIAL RESPONSE: IMPACT ON CORD BLOOD TRANSPLANTATION. A. Esteve-Sole, Á. Deyà-Martínez, Y. Luo, I. Teixido, A. Vlagea, J. Yagüe, A.M. Plaza-Martin, M. Juan, L. Alsina (Spain)

025

SELECTIVE IGA DEFICIENCY ASSOCIATED WITH TURNER SYNDROME C. Fusi, D.F. Ionescu, J.A. García Trujillo, S. Romero Chala, I. Tovar García, C. Camara Hijón, L.M. Fernández Pereira (Spain)

026

ELEVATED POLYCLONAL IGM LEVELS AND IMPAIRED B CELLS HOMEOSTASIS ASSOCIATED TO INCREASED SUSCEPTIBILITY TO LYMPHOPROLIFERATION V. Gallo, E. Cirillo, M.R. Prencipe, G. Scalia, G. Giardino, V. Martinelli, L. Del Vecchio, C. Saunders, A. Durandy, A. Leonardi, C. Pignata (Italy)

027

WHAT HAVE WE LEARNED FROM ARTEMIS MUTATED PATIENTS: FIFTEEN YEARS EXPERIENCE OF SINGLE CENTER IN KONYA E. Hazar Sayar, H. Kapakli, S.N. Guner, S. Keles, I. Reisli (Turkey)

029

A NOVEL TTC37 MUTATION CAUSING TRICHOHEPATOENTERIC SYNDROME IN A PATIENT WITH IMMUNODEFICIENCY WITHOUT DIARRHEA N. Karaca, A. Aykut, E. Pariltay, E. Azarsiz, G. Aksu, O. Cogulu, N. Kutukculer (Turkey)

030

CANCER INCIDENCE IN THE CZECH CVID POPULATION P. Kralickova, J. Haviger, T. Milota, D. Jilek, I. Malkusova, J. Petanova, J. Vydlakova, A. Zimulova, J. Litzman (Czech Republic)

031

A NOVEL GERMLINE IKAROS C-TERMINAL MUTATION IN A PATIENT WITH BURKITT LYMPHOMA, LYMPHOPROLIFERATION AND CYTOPENIAS H. Kuehn, J. Niemela, T. Shahin, A. Tondo, S. Ciullini Mannurita, K. Boztug, E. Gambineri, S. Rosenweig (USA)

032

IGG FC GLYCOSYLATION AFTER HEMATOPOIETIC STEM CELL TRANSPLANTATION IS DISSIMILAR TO DONOR PROFILES N. De Haan, M. Van Tol, G. Driessen, M. Wuhrer, A. Lankester (The Netherlands)

033

COMMON VARIABLE IMMUNODEFICIENCY AND LIVER-SPLEEN AXIS ABNORMALITIES: ANALYSIS OF MORTALITY OF CLINICAL PHENOTYPE F. Lima, M. Toledo Barros, C.F. Bernardes Silva, B. Sini, A.K. Barreto, O. Grecco, J. Kalil, C.M. Kokron (Brazil)

034

EARLY B CELL DEVELOPMENTAL IMPAIRMENT RESEMBLING AGAMMAGLOBULINEMIA IN NFKB2 MUTATED CVID DISEASE WITHOUT AUTOIMMUNITY V. Lougaris, M. Baronio, L. Gazzurelli, T. Lorenzini, D. Moratto, A. Plebani (Italy)

035

HUMAN INTERLEUKIN-10 (IL-10) PRODUCING B REGULATORY CELLS CAN BE DIVIDED IN CD45LOW AND CD45HIGH AND DEPEND ON BTK AND MTOR FOR SURVIVAL AND IL-10 PRODUCTION V. Lougaris, M. Baronio, L. Gazzurelli, T. Lorenzini, D. Moratto, R. Badolato, A. Plebani (Italy)

036

B CELL ACTIVATING FACTOR-DRIVEN B CELL HYPERPLASIA UNDERLIES LUNG DISEASE IN COMMON VARIABLE IMMUNODEFICIENCY P. Maglione, M. Cols, L. Radigan, H. Ko, E. Grasset, A. Cerutti, C. Cunningham-Rundles (USA)

037

X-LINKED AGAMMAGLOBULINEMIA: A PORTUGUESE NATIONAL SURVEY L. Marques, A. Fernandes, C. Teixeira, S. Lopes-da-Silva, S. Silva, I. Esteves, J.G. Marques, A. Cordeiro, J. Neves, F. Regateiro, S. Lemos, E. Faria (Portugal)

038

BROCHIECTASIS IN ADULTS WITH COMMON VARIABLE IMMUNODEFICIENCY A COHORT STUDY OF 32 PATIENTS. P. O Farrill, I.J. Vivas Rosales, N.H. Segura Méndez, M. Hernández Ojeda. (Mexico)

039

ANALYSIS OF MEMORY B-CELL AND PLASMA CELL SUBSETS EXPRESSING DIFFERENT IMMUNOGLOBULIN SUBCLASSES DEFINES SUBGROUPS OF CVID AND IG-SUBCLASS DEFICIENCIES BASED ON THE UNDERLYING B-CELL DEFECT M. Perez-Andres, E. Blanco, S. Arriba-Mendez, C. Serrano, L. Pino-Molina, S.L. Silva, I. Criado, I. Madruga, A. Serra-Caetano, T. Contreras-Sanfeliciano, F. Sala, A. Martin, J.M. Bastida, F. Lorente, C. Prieto, I. Davila, M. Marcos, T. Kalina, M. Vlkova, C. Bonroy, J. Philippé, E. Lopez-Granados, A.E. Sousa, M. Burg, J. Van Dongen, A. Orfao (Spain)

040

RELATIONSHIP OF IGA LEVELS AND INFECTIOUS AND NON-INFECTIOUS COMPLICATIONS IN PATIENTS ON IMMUNOGLOBULIN REPLACEMENT THERAPY P. Pimblett, S. Elkhalifa (United Kingdom)

041

SECONDARY ANTIBODY IMMUNODEFICIENCY AFTER ANTI CD20 THERAPY IN MS PATIENTS H. Posova, J. Ebrová (Czech Republic)

042

RESPIRATORY TRACT COLONIZATION BY ANTIBIOTIC-RESISTANT HAEMOPHILUS INFLUENZAE AND STREPTOCOCCUS PNEUMONIAE IN PATIENTS WITH PRIMARY ANTIBODY DEFICIENCIES: AN OBSERVATIONAL-PROSPECTIVE STUDY F. Pulvirenti, R. Camilli, M. Giufrè, C. Milito, F. Pimentel de Araujo, F. Mancini, R. Cardines, A. Ciervo, A. Pantosti, M. Cerquetti, I. Quinti (Italy)

043

T- AND B-CELL ABNORMALITIES AND MHC II EXPRESSION IN ATAXIA-TELANGIECTASIA CHILDREN WITH DIMINISHED NUMBER OF MEMORY B CELLS I. Sakovich, A.N. Kupchinskaya, S.N. Aleshkevich, O.E. Pashchenko, I. Guryanova, E. Polyakova, I.V. Kondratenko, O.V. Aleinikova, S.O. Sharapova (Belarus)

044

AN INTRONIC DELETION IN MKL1 IS ASSOCIATED WITH DYSREGULATION AND TRANSFORMATION OF B CELLS IN MONOZYGOTIC TRIPLETS WITH HODGKIN LYMPHOMA A. Sendel, J. Record, J.S. Kritikou, N.V. Kuznetsov, H. Brauner, M. He, N. Nagy, E. Griseti, C. Liu, A. Thrasher, J. Andersson, H.E. Claesson, O. Winqvist, S.O. Burns, M. Björkholm, L. Westerberg (Sweden)

045

B CELL DEVELOPMENT AND MATURATION OF THE IGH REPERTOIRE IN HEALTHY INFANTS DURING THE FIRST YEAR OF LIFE J. Sleasman, L. Yin, L. Sadder, B. Fischer, K.F. Chang, M. Goodenow (USA)

046

ADA2 DEFICIENCY COMPLICATED BY EBV-DRIVEN LYMPHOPROLIFERATIVE DISEASE E. Staples, I. Simeoni, D. Kumararatne, J. Stephens, N. I H R-BioResource, H. Lango-Allen, J. Thaventhiran (United Kingdom)

047

IMMUNE DISORDERS IN PATIENTS WITH MUTATIONS IN GENES BELONGING TO PI3K-AKT-MTOR AND RAS-MAPK PATHWAYS E. Valencic, A. Magnolato, E. Piscianz, F. Facca, F. Faletra, A. Tommasini (Italy)

048

HYPER-IGM-LIKE HUMORAL DEFICIENCY SECONDARY TO COMBINED CHEMOTHERAPY AND IMMUNOTHERAPY WITH RITUXIMAB AND ANTI-GD2 ANTIBODIES Y. Gordón, A. Deya-Martinez, A. Vlagea, L. Del Pino Molina, A. Esteve-Solé, M. Piquer, V. Celis, M. Arnan, M. Pascal, A.M. Plaza-Martin, J. Yagüe, E. López-Granados, M. Juan, L. Alsina (Spain)

049

FCΓ-RECEPTOR POLYMORPHISMS IN IMMUNOGLOBULIN G SUBCLASS DEFICIENCY P. Wågström, N. Yamada-Fowler, C. Dahle, Å. Nilsdotter-Augustinsson, M. Bengnér, J. Björkander (Sweden)

050

LARGE-SCALE CHROMATIN PROFILING DEFINES THE REGULATORY LANDSCAPE OF PRIMARY ANTIBODY DEFICIENCIES F. Zhao, T. Krausgruber, A.F. Rendeiro, K. Grabmeier-Pfistershammer, I. Pico-Knijnenburg, C.B. Geier, H.M. Wolf, L. Hammarström, M. Van der Burg, K. Boztug, C. Bock (Austria)

051

DIAGNOSTICS

Poster Board Number

SCREENING OF MONOGENIC IBD IN HOKKAIDO, JAPAN LED TO THE DIAGNOSIS OF 4 PATIENTS WITH XIAP DEFICIENCY AND ONE WITH IPEX SYNDROME WITHOUT AIE-75 AUTOANTIBODIES S. Abdrabou, Y. Tozawa, T. Nobuta, S. Takezaki, T. Ariga, O. Ohara, Y. Sasahara, T. Uchida, M. Konno, M. Takahashi, N. Toita, S. Fujiwara, A. Kamada, M. Yamada (Japan)

052

THE CLINICAL AND IMMUNOLOGICAL FINDINGS OF PATIENTS WITH PRIMARY ANTIBODY DEFICIENCIES A. Aghamohammadi, R. Yazdani, G. Azizi, H. Abolhassani (Iran)

053

POLYAUTOIMMUNITY IN PATIENTS WITH LRBA DEFICIENCY A. Aghamohammadi, R. Yazdani, G. Azizi, H. Abolhassani (Iran)

054

DIAGNOSIS IN PRIMARY IMMUNODEFICIENCY DISEASES BY NEXT GENERATION SEQUENCING IN HOSPITAL 12 DE OCTUBRE: A SINGLE-CENTER EXPERIENCE L. Allende, R. Ruiz-García, L. Naranjo, M. El amri, E. Gómez-Massa, O. Cabrera-Marante, M.J. Díaz-Madroñero, I. Castro, P. Morales, M. López-Nevado, J. Blas-Espada, M.J. Castro-Panete, J. Ruiz-Contreras, E. Paz-Artal, L.I. González-Granado (Spain)

055

ARE CLINICIANS AWARE OF ESID’S SELECTIVE IMMUNOGLOBULIN A DEFICIENCY DIAGNOSTIC CRITERIA? J. Almeida, B. Malheiro, M. Majar, A. Mesquita, A. Estrada (Portugal)

056

GRANULOMATOUS LYMPHOCYTIC INTERSTITIAL LUNG DISEASE GLILD IN CHILDREN: UNDERLYING MONOGENIC DISEASE AND SEVERE CLINICAL COURSE T. Al Farsi, F. Rieux-Laucat, S. Latour, S. Hughes, R.F. Wynn, P. Arkwright (United Kingdom)

057

REFERENCE RANGES FOR SERUM IMMUNOGLOBULIN (IGG, IGA, AND IGM) AND SUBCLASSES OF IGG IN HEALTHY TURKISH CHILDREN R.O. Bayram, H. Ucaryilmaz, A. Emsen, H. Turk Dagi, H. Artac (Turkey)

058

ITK DEFICIENCY PRESENTING AS AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME S. Beaussant Cohen, M. Alosaimi, C. Djambas Khayat, C. Mehawej, J. Chou, R. Geha (USA)

059

WHICH MECHANISM FOR THE ASSOCIATION BETWEEN SEVERE COMBINED IMMUNODEFICIENCY T-B+NK- AND HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS? B. Belaid, F. Merah, S.Y. Rahali, A. Djidjeli, A. Bouatoura, Y. Hassinet, R. Boukari, R. Djidjik (Algeria)

060

DIAGNOSIS OF PRIMARY IMMUNODEFICIENCY DISEASES IN THE ERA OF NEXT-GENERATION SEQUENCING I. Guryanova, K. Paliakova, S. Alishkevich, I. Sakovich, S. Sharapova, M. Belevtsev (Russia)

061

FLOW CYTOMETRIC MEASUREMENT OF PRIMARY IMMUNODEFICIENCIES M. Bitar, A. Boldt, S. Ulrich (Germany)

062

COMMON VARIABLE IMMUNODEFICIENCY DUE TO CD19 DEFECT: REPORT OF THE FIRST ALGERIAN PATIENT N. Kechout, K. Saidani, H. Baaziz, R. Yahi, N. Attal, R. Boukari (Algeria)

063

PSEUDO-SARCOIDOSIS REVEALING MONOMAC SYNDROME L. Damian, G. Sauvêtre, M. Grall, N. Girszyn, M. Le Besnerais, Y. Benhamou, F. Marguet, M. Verdalle-Cazes, F. Sicre de Fontbrune, D. Boutboul (France)

064

ELEVATED ALPHA-FETOPROTEIN IN TWO PATIENTS WITH SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY L.Y. Bravo Gallego, M. Bravo García-Morato, T. Del Rosal Rabes, M.E. Ana María, A. Colmenero Velázquez, J.L. Valdivieso Shephard, E. Sánchez Zapardiel, C. Gianelli, A. Ferreira Cerdán, E. López Granados, R. Rodríguez Pena (Spain)

065

CLINICAL EVALUATIONS OF THE PATİENTS WITH RAG 1/2 DEFECTS: HACETTEPE EXPERIENCE FROM TURKEY B. Karaatmaca, D. Çağdaş Ayvaz, T. Turul Özgür, G. Türkkanı Asal, B. Erman, Ç. Tan, K. Boztuğ, M. Van Der Burg, Ö. Sanal, İ. Tezcan (Turkey)

066

EVANS SYNDROME WITH SEQUENTIAL SIGNS MAKING DIAGNOSIS MORE DIFFICULT: A PROPOS1 CASE G. Chalhoub (France)

067

A FIRST DESCRIPTION OF PULMONARY SALMONELLOSIS IN A PATIENT WITH IL-12RB1 DEFICIENCY M. Chbihi, R. Lévy, M. Bendavid, M. Ouachée, S. Breton, T. Molina, J. Bustamante, S. Latour, S. Blanche, B. Neven (France)

068

TREC\KREC AS A TOOL FOR PID SCREENING IN THE TERTIARY IMMUNOLOGY CENTER SETTINGS. E. Chernyshova, L. Anastasevich, M. Khadzhieva, Y. Rodina, E. Deripapa, A. Roppelt, D. Yukhacheva, O. Shvets, A. Laberko, A.G. Rumyantsev, S. Larin, A. Shcherbina (Russia)

069

DEVELOPMENT OF TARGETED NGS PLATFORMS FOR GENETIC SCREENING AND GENE DISCOVERY IN PRIMARY IMMUNODEFICIENCIES C. Cifaldi, I. Brigida, M. Zoccolillo, V. Ferradini, D. Petricone, D. Lazarevic, D. Cittaro, E. Attardi, F. Barzaghi, M.P. Cicalese, F. Conti, M. Chiriaco, S. Di Cesare, P. Palma, A. Finocchi, P. Rossi, P. Rossi, F. Sangiuolo, A. Aiuti, C. Cancrini, G. Di matteo (Italy)

070

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DIAGNOSIS BY FLOW CYTOMETRY S. Cinar, M.Y. Gelmez, Y. Camcioglu, G. Deniz (Turkey)

071

SEVERE PHENOTYPE OF LRBA DEFICIENCY IN A PATIENT WITH A NOVEL HOMOZYGOUS MUTATION DUE TO A CHROMOSOME 4 SEGMENTAL UNIPARENTAL ISODISOMY R. Colobran, M. Garcia Prat, A. Martín-Nalda, C. Franco-Jarava, M. Martínez-Gallo, A. Plaja, M. Bosio, S. Ossowski, P. Soler-Palacín (Spain)

072

CORRELATION BETWEEN SERUM CALCULATED GLOBULIN AND IMMUNOGLOBULIN G IN BRAZILIAN PEDIATRIC AND ADULT POPULATIONS C. Piza, B. Costa-Carvalho, S. Jolles, A. Condino-Neto (Brazil)

073

CHRONIC GRANULOMATOUS DISEASE MIMICKING HISTIOCYTOSIS Y. Kashiwabara, L. Cunha, F. Cruz, F. Santos, J. Fernandes, R. Souza, J. Pinto (Brazil)

074

2 REFERRALS FOR SARCOIDOSIS TURNED INTO GRANULOMATOUS LYMPHOCYTIC INTERSTITIAL LUNG DISEASE (GLILD) F. Delle Vedove, R. Neri, F. Cinetto, R. Scarpa, C. Agostini (Italy)

075

LYMPHOMATOID GRANULOMATOSIS (LYG) IN CHILDREN WITH PRIMARY IMMUNODEFICIENCY (PID). E. Deripapa, Y. Rodina, A. Roppelt, O. Shvets, E. Victorova, D. Yukhacheva, A. Laberko, D. Abramov, D. Konovalov, N. Myakova, D. Balashov, L. Shelikhova, G. Novichkova, A. Shcherbina (Russia)

076

DERIVATION´S STUDY OF RISK FACTORS FOR THE DEVELOPMENT OF BRONCHIECTASIAS IN PATIENTS WITH HUMORAL DEFECT IN ACCOMPANIMENT IN THE IMMUNOLOGY SERVICE OF THE UFMG. T. Dias, L. Cunha, J. Pinto, F. Minafra (Brazil)

077

IDENTIFYING PRIMARY IMMUNODEFICIENCY DISEASES (PIDS) IN TUBERCULOSIS ENDEMIC SOUTH AFRICA M. Esser, B. Glanzmann, A. Van Coller, C. Uren, R. Nortje, J. Peter, A. Van Niekerk, M. Urban, R. Glashoff, M. Möller, C. Kinnear (South Africa)

078

EVALUATING THE GENETICS OF COMMON VARIABLE IMMUNODEFICIENCY: MONOGENETIC MODEL AND BEYOND G. De Valles-Ibáñez, A. Esteve-Sole, M. Piquer, E.A. González-Navarro, J. Hernandez-Rodriguez, H. Laayouni, E. González-Roca, A.M. Plaza-Martin- A. Deyà-Martínez, A. Martín-Nalda- P. Soler-Palacín, M. Martinez-Gallo- R. Colobran, M. García-Prat, L. Del Pino-Molina- E. López-Granados, I. Cuscó- M. Codina-Solà, L. Batlle-Masó- M. Solís-Moruno, T. Marquès-Bonet, E. Bosch, J.I. Aróstegui: J. Yagüe, L. Alsina, M. Juan, F. Casals (Spain)

079

ABSENCE OF CD4 IN ADULTHOOD: A PHENOTYPIC AND GENETIC STUDY R.A. Fernandes, M. Perez-Andres, A. Orfão, I. Coutinho, A. Paiva, E. Faria (Portugal)

080

CHARACTERIZATION OF A COHORT OF 20 PATIENTS WITH EBV-ASSOCIATED T/NK-CELL LYMPHOPROLIFERATIVE DISEASES B. Fournier, S. Winter, E. Martin, C. Boulanger, C. Bloch-Queyrat, A. Belot, B. Dunogué, F. Suarez, J. Bruneau, A. Fischer, D. Moshous, C. Picard, L. Galicier, D. Boutboul, V. Barlogis, B. Neven, S. Latour (France)

081

A NOVEL DE NOVO MUTATION IN THE CD40 LIGAND GENE IN A PATIENT WITH A MILD X-LINKED HYPER-IGM PHENOTYPE INITIALLY DIAGNOSED AS CVID T.T. França, L.F.B. Leite, T.A. Maximo, C.G. Lambert, N.B. Zurro, W.C.N. Forte, A. Condino-Neto (Brazil)

082

C5 COMPLEMENT FACTOR MUTATIONS ARE PREVALENT IN AFRICA: IMPLICATIONS FOR THE SUSCEPTIBILITY TO MENINGOCOCCAL DISEASE C. Franco-Jarava, D. Comas, A. Martín-Nalda, P. Soler-Palacin, M. Hernandez-Gonzalez, R. Colobran (Spain)

083

WISKOTT-ALDRICH SYNDROME DUE TO A NOVEL MUTATION IN WAS IN TWO COUSINS WITH SEVERE THROMBOCYTOPENIA WITH NORMAL SIZED PLATELETS AND MILD IMMUNE ABNORMALITIES L.N. Builes, B.H. Aristizábal, J.A. Álvarez A, J.L. Franco (Colombia)

084

CLINICAL SPECTRUM AND FEATURES OF HETEROZYGOUS GAIN-OF-FUNCTION MUTATION IN STAT3 GENE IN A PREGNANT WOMAN AND A BOY. L. Furlaneto Marega, J. Schincariol Sabino, M.V. Costa Pedroni, M.A. Teocchi, A. Gut Lopes Riccetto, M.T.N. Da Silva, D. Martins de Albuquerque, F. Ferreira Costa, M.M. Vilela ()

085

IMPROVING THE DIAGNOSTIC YIELD OF PRIMARY IMMUNODEFICIENCIES IN CLINICAL LABORATORY WITH TARGETED NEXT GENERATION SEQUENCING M. Fusaro, J. Rosain, S. Hanein, V. Grandin, N. Lambert, J.S. Diana, M. Castelle, C. Dumaine, N. Renaud, N. Mahlaoui, D. Boutboul, F. Suarez, O. Hermine, G. Vogt, A. Alcais, S. Blanche, J. Bustamante, D. Moshous, B. Neven, A. Fischer, C. Picard (France)

086

THE SPECTRUM OF IMMUNOLOGICAL ABNORMALITIES IN PATIENTS WITH JACOBSEN SYNDROME C.C. Gianelli, L.Y. Bravo Gallego, A. Colmenero Velazquez, J.L. Valdivieso Shepard, S. Garcia Miñaur, M. Bravo Garcia Morato, R. Rodriguez Pena, A. Ferreira Cerdan, E. Lopez Granados (Spain)

087

PRECISION MEDICINE IN IMMUNODEFICIENCIES: IDENTIFICATION OF A MISSENSE VARIANT IN TLR3 GENE THROUGH NEXT GENERATION SEQUENCING (NGS) IN FAMILIAL SEVERE HERPES SIMPLEX ENCEPHALITIS (HSE) R. Romano, G. Giardino, E. Cirillo, V. Gallo, R. Prencipe, A. Leonardi, C. Pignata (Italy)

088

RETROSPECTIVE DIAGNOSIS OF SEVERE COMBINED IMMUNODEFICIENCY USING NEWBORN SCREENING AND SANGER SEQUENCING TOOLS J. Gil-Herrera, J.M. Lucena-Soto, B. De Felipe, E. Dulin, O. Neth (Spain)

089

EXOME SEQUENCING APPROACH FOR COMBINED IMMUNODEFICIENCY IDENTIFIES A NOVEL MUTATION IN MAP3K14 B. Glanzmann, N. De Villiers, E. Hoal, M. Schoeman, B.S. Petersen, A. Franke, Y.L. Lau, M. Urban, P. Van Helden, M. Esser (South Africa)

090

CLINICAL AND IMMUNOLOGICAL CHARACTERIZATION OF THE ERASME ADULT PRIMARY IMMUNODEFICIENCY DISEASES COHORT I. Goumas De Oliveira, C. Wyndham-Thomas, L. Schandene, J. Smet, J.C. Goffard (Belgium)

091

AS GOOD AS IT CAN GET J. Gonçalves, D. Guimarães de Oliveira, R. Faria, F. Farinha (Portugal)

092

NEW T+B-NK- COMBINED IMMUNODEFICIENCIES: EXPANDING THE CLINICAL PHENOTYPE L.I. Gonzalez-Granado, N. Dominguez-Pinilla, J. Sevilla, M.J. Díaz-Madroñero, M. López-Nevado, M. Martin Cabezudo, J. Blas-Espada, M.T. Fernandez Gonzalez, N. Salmon Rodriguez, C. Cortés-Ledesma, L.M. Allende (Spain)

093

MOLECULAR ANALYSIS OF CIRCULATING IMMUNE COMPLEXES ISOLATED FROM PATIENTS WITH NIJMEGEN BREAKAGE SYNDROME, A CANCER-PRONE DISEASES WITH PROFOUND IMMUNODEFICIENCY H. Gregorek, K. Chrzanowska, B. Kasztelewicz, B. Pietrucha, B. Wolska-Kusnierz, K. Dzierzanowska-Fangrat (Poland)

094

MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II DEFICIENCY IN TUNISIA: CLINICAL AND EVOLUTIONARY ASPECTS N. Guirat, R. Kouki, M. Ouederni, M. Ben Khaled, F. Mellouli, M. Bejaoui (Tunisia)

095

A RARE ASSOCIATION OF GOOD SYNDROME WITH PULMONARY TUBERCULOSIS N. Guirat, R. Kouki, M. Ouederni, M. Ben Khaled, F. Mellouli, M. Bejaoui (Tunisia)

096

CLINICAL AND LABORATORY EVALUATION OF SYNDROMIC IMMUNODEFICIENCIES M.S. Yilmaz, S.N. Guner, H. Kapaklı, S. Yildirim, S. Keles, I. Reisli (Turkey)

097

AN UNUSUAL CLINICAL PRESENTATION OF THE NETHERTON SYNDROME: A CASE REPORT M. Guseva, E. Suspitsin, S. Anna, M. Elena, M. Makhova (Russia)

098

ALLERGIC BRONCHOPULMONARY MYCOSES IN LOF STAT3 HIES J. Heimall, A. Urban, J. Bergerson, D. Darnell, K.N. Olivier, A.F. Freeman (USA)

099

HIGH INCIDENCE OF PRIMARY IMMUNODEFICIENCIES IN PATIENTS HOSPITALIZED FOR INVASIVE PNEUMOCOCCAL DISEASES E. Hernández Brito, E. Colino-Gil, M.R. García-Luzardo, M.T. Martínez-Saavedra, F. Artiles-Campelo, M. Santana-Hernández, N. Gonzalez-Quevedo, C. Rodríguez-Gallego (Spain)

100

A RARE DIAGNOSIS WITH RECURRENT ABSCESSES: SPECIFIC GRANULE DEFICIENCY S. Köstel Bal, S. Haskologlu, T. Cancan Erat, E. Çiftçi, K. Boztug, F. Dogu, A. Ikinciogullari (Austria)

101

GENERALIZED VERRUCOSIS ASSOCIATED WITH DCML DEFICIENCY SYNDROME: A CASE REPORT A. El Kettani, F.Z. Elfatoiki, F. Hali, L. Jeddane, J. El Bakkouri, I. Benhsaein, F. Ailal, E. Jouanguy, A.A. Bousfiha, S. Chihab (Morocco)

102

WOULD NEWBORN SCREENING FOR SCID BE COST-EFFECTIVE IN MOROCCO ? L. Jeddane, M. Haouane, I. Smyej, K. Ouldim, A. Bousfiha (Morocco)

103

DETAILED FAMILY HISTORY BRINGS THE ACCURATE DIAGNOSIS IN PRIMARY IMMUNODEFICIENCY DISORDERS. N. Kasap, E. Nain, A. Kıykım, S. Bilgic Eltan, S. Barıs, E. Karakoc-Aydiner, A. Ozen (Turkey)

104

TWO FAMILY CASES OF LATE DIAGNOSTIC OF ATYPICAL X-SCID WITH NGS O. Pashchenko, I. Kondratenko, S. Vakhlyarskaya, A. Bologov, E. Suspicin (Russia)

105

A PATIENT WITH OX40 DEFICIENCY O. Pashchenko, I. Kondratenko, S. Vakhlyarskaya, A. Bologov, E. Suspicin (Russia)

106

SPECTRUM OF GENETIC DEFECTS IN A GROUP OF PRIMARY IMMUNODEFICIENCY (PID) PATIENTS WITH CYTOPENIAS: RESULTS OF TARGETED PANEL NEXT GENERATION SEQUENCING (NGS) N. Kuzmenko, Y. Rodina, A. Mukhina, M. Kurnikova, I. Mersiyanova, A. Pavlova, R. Abasov, S. Mann, V. Zakharova Viktoria, E. Raykina, A. Shcherbina, M. Maschan (Russia)

107

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY – CASE REPORT A. Lachado, C. Teixeira, A. Fernandes, M.A. Gonçalves, J. Vasconcelos, E. Neves, H. Abolhassan, Q.P. Hammarström, L. Marques (Portugal)

108

CHRONIC GRANULOMATOUS DISEASE WITH POST-TRANSPLANT EBV COMPLICATIONS A. Lachado, C. Teixeira, A. Fernandes, M. Guedes, J. Vasconcelos, E. Neves, L. Marques (Portugal)

109

GOLD STANDARD VALIDATION OF GRID, A GENE PANEL FOR POPULATION LEVEL PID SCREENING H. Lango Allen, O. Shamardina, S.V.V. Deevi, J.C. Stephens, K. Megy, D. Duarte, D. Whitehorn, R. Mapeta, N.I.H.R. BioResource, E. Turro, K.G.C. Smith, J.E. Thaventhiran, I. Simeoni (United Kingdom)

110

DIFFERENT CLINICAL PRESENTATIONS IN TWO CASES WITH PIK3CD MUTATION S. Lee, D.I. Suh, S. Ko, J.H. Sim, H.R. Kim, J. Kim (Republic of Korea)

111

DUPLICATION OF EXON 9, 10, AND 11 IN CYBB RESULTING IN X-LINKED CHRONIC GRANULOMATOUS DISEASE IN NON-IDENTICAL TWIN BOYS W.T. Lei, C.L. Ku, C.C. Lo (Taiwan R.O.C.)

112

LONG TERM FOLLOW-UP OF PATIENTS WITH THE 22Q11 DELETION SYNDROME AND LOW TRECS IN THE NEWBORN PERIOD J. Lingman Framme, S. Óskarsdóttir, V. Lundberg, S. Lindgren, K. Thörn, C. Lundqvist, A.C. Lundell, S. Borte, L. Hammarström, R. Zetterström, A. Fasth, O. Ekwall (Sweden)

113

MRI VERSUS COLONOSCOPY FOR THE ASSESSMENT OF CHRONIC GRANULOMATOUS DISEASE COLITIS, AND THE UTILITY OF FAECAL CALPROTECTIN AND HARVEY-BRADSHAW INDEX P. Smith, P. Wylie, S. Taylor, H. Braggins, F. Moreira, C. Murray, D. Lowe (United Kingdom)

114

LATE ONSET OF MATERNAL CD8 T-CELL GVHD IN A TODDLER WITH JAK3 SEVERE COMBINED IMMUNODEFICIENCY J.M. Lucena, R. De la Varga, W. Goycochea-Valdivia, P. Sanchez-Moreno, P. Olbrich, B. De Felipe, B. Sanchez, O. Neth (Spain)

115

A NOVEL SPLICING MUTATION IN A PATIENT WITH GRISCELLI SYNDROME TYPE 2 J.M. Lucena, R. De la Varga, M. Lopez-Marcos, A. Perez-Sanchez, P. Olbrich, O. Neth, B. Sanchez (Spain)

116

PATIENT WITH SEVERE AND PERSISTENT LYMPHOPENIA SINCE HE WAS 14 YEARS OLD, HIV NEGATIVE AND WITHOUT STEROIDS TREATMENT L. Tricas, J.L. Martín Alonso, G. M.Sánchez, V. Corte Iglesias, R. Gómez de la Torre (Spain)

117

DN T CELL MARKERS SPECIFIC OF THE ALPS-FAS CONDITION A. Magerus, O. Pelle, M.C. Stolzenberg, S. Jacques, C. Picard, B. Neven, A. Fischer, F. Rieux-Laucat (France)

118

EARLY ONSET PRIMARY IMMUNODEFICIENCIES C. Lemos, A. Lachado, A. Fernandes, C. Teixeira, J. Vasconcelos, L. Marques (Portugal)

119

PRIMARY IMMUNODEFICIENCIES – THE CENTRO HOSPITALAR DO PORTO 20 YEARS EXPERIENCE L. Marques, A. Marinho, J. Guimarães, J. Vasconcelos, E. Neves (Portugal)

120

NEWBORN SCREENING (NBS) PROGRAM EXPERIENCE FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID) DIAGNOSTIC IN CATALONIA A. Martin, J. Riviere, A. Argudo Ramirez, J.L. Marin Soria, R.M. López Galera, S. Pajares Garcia, A. Arias Dimas, A. Ribes Rubio, R. Colobran Oriol, C. Franco-Jarava, M. Garcia Prat, M. Martinez-Gallo, M. Hernandez, R. Fernández Bardon, P. Soler-Palacin (Spain)

121

TARGETED NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY IN THE IRISH TRAVELER POPULATION USING LYMPHOCYTE COUNT K. Mccarthy, N. Aber, G. Dempsey (Ireland)

122

A LINK BETWEEN AUTOIMMUNITY AND PRIMARY IMMUNODEFICIENCY IN PATIENTS WITH PRIMARY IGG SUBCLASS DEFICIENCY M.A. Mejía González, M. Dinatale, J. Navarro, E. Sarmiento, J. Carbone, E. Fernández-Cruz (Spain)

123

ATYPICAL MILD PHENOTYPE IN A PATIENT WITH NHEJ1 GENE DEFICIENCY I. Mersiyanova, E. Raykina, O. Shvets, A. Pavlova, R. Abasov, I. Abramova, Y. Rodina, M. Maschan, A. Shcherbina (Russia)

124

B CELLS SUBPOPULATION IN 3 CHILDREN WITH COMMON VARIABLE IMMUNODEFICIENCY AND A CONTROL HEALTHY GROUP IN CÓRDOBA – ARGENTINA N. Miranda, A.I. Cassinerio, B.M.I. Pereira, A. Blanco, V. Skrie, J.C. Orellana ()

125

A NEW MUTATION OF CTSC ASSOCIATED WITH PAPILLON-LEFÈVRE SYNDROME: CASE REPORT A. Moura, F. Regateiro, E. Resende, H. Silva, A. Todo Bom, E. Faria (Portugal)

126

ADULT PATIENTS WITH PID IN AZERBAIJAN G. Nasrullayeva, V. Mammadova, S. Ibrahimova (Azerbaijan)

127

GRANULOMATOUS-LYMPHOCYTIC INTERSTITIAL LUNG DISEASE (GLILD) IN COMMON VARIABLE IMMUNODEFICIENCY (CVID): A SINGLE CENTER RETROSPECTIVE STUDY R. Neri, F. Cinetto, C. Agostini (Italy)

128

PROSPECTIVE SCREENING FOR SEVERE COMBINED PRIMARY IMMUNODEFICIENCIES IN SEVILLE: COMPARISON OF THREE TECHNIQUES B. De Felipe, P. Olbrich, P. Sánchez-Moreno, J.M. Lucena, C. Delgado, C. Salamanca, J. Marquez, O. Neth (Spain)

129

SCREENING OF PRIMARY IMMUNE DEFICIENCIES IN CHILDREN WITH BCG DISEASE M. Ouederni, R. Cherni, M. Ben Khaled, S. Rekaya, R. Kouki, N. Dhouib, F. Mellouli, M. Bejaoui (Tunisia)

130

PRIMARY IMMUNODEFICIENCIES IN TURKEY: A SINGLE CENTER EXPERIENCE H. Dasdemir, S. Kocek, N. Ozdemir, S. Ozguc, A. Yildirim, M. Kacmaz, A. Kiykim, S. Baris, E. Karakoc-Aydiner, A. Ozen (Turkey)

131

A NOVEL NOD2 MUTATION AS THE UNDERLYING CAUSE OF A COMPLEX PRIMARY IMMUNODEFICIENCY WITH SEVERE OPPORTUNISTIC INFECTIONS

132

A. Palma, J. Yancoski, V. Goris, A. Bernasconi, R. Mitchell, L. Perez, N. Villa, M.F. Vargas, L. Urdinez, S. Danielian, M. Oleastro (Argentina)

VALIDATION OF CALCULATED GLOBULIN AS A SCREENING TEST FOR ANTIBODY DEFICIENCY IN AN ITALIAN UNIVERSITY HOSPITAL A. Pecoraro, L. Crescenzi, G. Varricchi, G. Marone, M. Ricciardone, A. Del Rio, M. Savoia, A. Genovese, S. Jolles, G. Spadaro (Italy)

133

THE ASSESSMENT OF RADIOSENSITIVITY IN PATIENTS WITH ATAXIA-TELANGIECTASIA SYNDROME AND IN CARRIERS OF THE MUTATED ATM GENE USING LYMPHOBLASTOID CELL LINES. B. Pietrucha, H. Gregorek, E. Heropolitanska-Pliszka, B. Cukrowska, E. Konopka, E. Bernatowska (Poland)

134

CLOZAPINE AND SCHIZOPHRENIA IN THE IMMUNODEFICIENCY CLINIC M.J. Ponsford, D. Castle, T. Tahir, R. Robinson, W. Wade, R. Steven, K. Bramhall, M. Moody, E. Carne, C. Ford, D. Farewell, P. William, T. El-Shanawany, S. Jolles (United Kingdom)

135

SIFD SYNDROME (TRNT-1 DEFICIENCY) IS ASSOCIATED WITH ACCELERATED SHORTENING OF TELOMERE LENGTHS IN PERIPHERAL BLOOD M.J. Ponsford, K. Norris, R.E. Robinson, L. Rogers, K. Cleal, C. Powell, S. Struik, J. Evans, J.W. Grimstead, R. Stevens, T. El-Shanawany, P.E. Williams, R. Cousins, E. Carne, G. Rasul, C. Kingdon, C. Price, A. Matthews, F. McGuire, T. Vulliamy, I. Dokal, R. Wynn, P.K. Chakraborty, M. Fleming, D.M. Baird, S. Jolles (United Kingdom)

136

TYPHIM VI VACCINATION IN IMMUNODEFICIENCY PATIENTS ON IMMUNOGLOBULIN REPLACEMENT THERAPY R. Steven, A. Whittaker, F. McGuire, R. Webb, A. Parker, L. Williams, M. Ponsford, R. Cousins, P.E. Williams, T. El-Shanawany, S. Jolles (United Kingdom)

137

NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY AND T-CELL LYMPHOPENIA IN OVER 3 MILLION INFANTS IN CALIFORNIA: FACILITATING MANAGEMENT, OPTIMIZING TREATMENT AND CONTRIBUTING NEW INSIGHTS J. Puck, G. Amatuni, R. Currier, J. Church, T. Bishop, E. Grimbacher, A. Nguyen, R. Agarwal-Hashmi, C. Aznar, M. Butte, M. Cowan, M. Dorsey, C. Dvorak, N. Kapoor, D. Kohn, M.L. Markert, T. Moore, S. Naides, S. Sciortino, R. Koupaei, L. Feuchtbaum (USA)

138

PATIENTS WITH XLP TYPE 1 HAVE VARIABLE NUMBERS OF INVARIANT NKT CELLS E. Ralph, J. Hobbs, C. Booth, K. Gilmour (United Kingdom)

139

WISKOTT-ALDRICH SYNDROME (WAS) IN A GIRL WITH SKEWED X-CHROMOSOME INACTIVATION. A. Moiseeva, I. Mersiyanova, L. Hachatrian, A. Karelin, S. Kovrigin, D. Pershin, O. Shragina, A. Roppelt, Y. Rodina, A. Shcherbina (Russia)

140

SAFETY AND UTILITY OF LUNG BIOPSY IN PRIMARY IMMUNODEFICIENCY F. Saettini, N. Muthialu, A. Worth (Italy)

141

PHYSIOLOGICAL SUSCEPTIBILITY TO INFECTION AND PRIMARY IMMUNODEFICIENCY: DIFFERENTIONTION BASED ON CLINICAL CHARECTERISTICS AND COURSE U. Schauer, T. Rothoeft, M. Rehman (Germany)

142

SWACHMAN-DIAMOND SYNDROME (SDS): CLINICAL AND LABORATORY PRESENTATION AS CVID A.G. Seminario, I. Moreira, M.S. Caldirola, L. Regairaz, M.I. Gaillard, J. Chou, R. Geha, L. Bezrodnik (Argentina)

143

POPULATION LEVEL SCREENING OF PID PATIENTS BY GRID – GENOMICS OF RARE IMMUNE DISORDERS – GENE PANEL I. Simeoni, W. Rae, O. Shamardina, S.V.V. Deevi, E. Staples, R. Mapeta, N. I H R BioResource, S. Savic, S.O. Burns, W.H. Ouwehand, K.G.C. Smith, J.E. Thaventhiran, H. Lango Allen (United Kingdom)

144

DIAGNOSTIC AND CLINICAL UTILITY OF WHOLE EXOME SEQUENCING IN IMMUNE DISEASES C. Slade, F. Moghaddas, S. Masters, I. Winship, K. West, A. Trainer, S. Ojaimi, M. Hunter, Y. Prawer, K. Nicholls, M. Patel, P. Auyeung, K. Spriggs, J. McComish, G. Unglik, J. De Luca, S. Chan, A. Jarmolowicz, G. Valente, L. Hosking, S. Choo, T. Cole, J. Smart, E. Lynch, C. Gaff, B. Van Dort, Z. Stark, S. Lunke, J. Douglass, V. Bryant (Australia)

145

IMPACT OF COLLABORATION BETWEEN INTERNATIONAL NETWORKS AND COUNTRIES WITH LIMITED RESOURCES IN THE DIAGNOSIS AND MANAGEMENT OF PIDS A. Sobh, J. Chou, R. S. Geha (Egypt)

146

FAMILIAR HYPOGAMMAGLOBULINEMIA WITH HIGH RECENT THYMIC EMIGRANTS. A. Tommasini, E. Valencic, E. Conversano, Tommasini, F. Faletra, A.M. Bianco, A.P. D'Adamo (Italy)

147

PERSONALIZED DIAGNOSIS: SIMPLE TESTS TO DEFINE COMPLEX DEFECTS E. Piscianz, E. Valencic, S. Naviglio, A. Tommasini (Italy)

148

THE DIFFICULTY OF PRENATAL GENETIC TESTING IN X-CHROMOSOME CHRONIC GRANULOMATOUS DISEASE B. Tóth, P. Zsuzsanna (Hungary)

149

IL-12/ IFNΓ AXIS EVALUATION USING LPS STIMULATION: AN INDEPENDENT OF IMMUNITY TO MYCOBACTERIA ASSAY M. Tzanoudaki, E. Farmaki, S. Tantou, E. Papadimitriou, E. Gkika, E. Ploumi, A. Sarantopoulou, V. Polaki, A. Limioti, A. Taparkou, K. Kotsonis, M. Liatsis, M. Tsolia, M. Kanariou (Greece)

150

CHRONIC GRANULOMATOUS DISEASE AND CNS IMMUNE COMPROMISE I.L. Uriarte, L. Marcon, C.M. Merhar, V. Goris (Argentina)

151

QUANTITATIVE COMPUTED TOMOGRAPHY IN THE ASSESSMENT OF PULMONARY DISEASE PROGRESSION IN COMMON VARIABLE IMMUNODEFICIENCY PATIENTS: A LONGITUDINAL COHORT STUDY F. Van Royen, S. Moll, P. De Jong, F. Mohamed Hoesein, E. Pompe, P. Ellerbroek, J. Van Montfrans (The Netherlands)

152

NEXT GENERATION TREC ANALYSIS TO QUANTIFY EXTENSIVE MEMORY T-CELL PROLIFERATION AND ABNORMAL T-CELL REPLICATION IN ANTIBODY DEFICIENCY, AND TO IMPROVE NEWBORN SCREENING R. Verstegen, P. Aui, E. Watson, S. De Jong, S. Bartol, J. Bosco, P. Cameron, R. Stirling, E. De Vries, J. Van Dongen, M. Van Zelm (Australia)

153

THE PERFORMANCE OF A NEW, HOMOGENOUS SINGLE-POINT PCR ASSAY FOR SIMULTANEOUS QUANTITATION OF TREC AND KREC V. Veikkolainen, M. Mäkinen, A. Ylikoski, P. Kerokoski, V. Laitala, H. Frang, M. Hjort, V. Salo, T. Wotton, R. Esber, V. Wiley, H.M. Raussi (Finland)

154

DISEASE DEVELOPMENT OF XIAP DEFICIENCY (XLP2) ASSOCIATED WITH A RARE POLYMORPHISM IN CASP9 J. Schincariol Sabino, L. Furlaneto Marega, M.V. Costa Pedroni, M.A. Teocchi, A. Gut Lopes Riccetto, M.T.N. Da Silva, D. Martins de Albuquerque, F. Ferreira Costa, M.M. Vilela (Brazil)

155

EXPERIENCES FROM USING WHOLE GENOME SEQUENCING AS A DIAGNOSTIC TOOL FOR IMMUNODEFICIENCY PATIENTS S. Vonlanthen, S. Enoksson, V. Wirta, H. Stranneheim, A. Wedell, A.C. Wikström, P. Marits (Sweden)

156

SENSITIVE AND SPECIFIC MEASUREMENT OF LOW AVIDITY NATURAL OCCURRING IMMUNOGLOBULIN G ANTIBODIES A. Weber, A. Engelmaier, E. Minibeck (Austria)

157

STRATIFICATION OF RHEUMATIC DISEASE PATIENTS USING SALMONELLA TYPHI VI IGG RESPONSES L. Williams, G. Candelas, J. Ochoa-Grullón, P. Macarrón, M. Concepción, K. Llano Hernández, C. Martínez-Prada, A. Rodríguez de la Peña, B. Fernandez, J.Á. Jover, S. Harding, S. Sánchez-Ramón, A. Parker (United Kingdom)

158

ADA DEFICIT: AN ATYPICAL CASE WITH A RARE MUTATION O.A. Yarce Bustamante, S. Fernandez Alvarez, C. Ortega Gromaz, M. Santamaria Ossorio (Spain)

159

GENETIC STUDY OF 128 PRIMARY IMMUNODEFICIENCIES MOROCCAN F. Ailal, I. Benhsaien, L. Jeddane, H. Naamane, L. Aitbaba, Z. Aadam, A. Barakat, J.L. Casanova, A.A. Bousfiha (Morocco)

160

EFFICACY OF NEXT GENERATION SEQUENCING FOR DIAGNOSING PRIMARY IMMUNODEFICIENCIES H. Yska, J. Van Montfrans, K. Elsink, G. Frederix, M. Van Gijn (The Netherlands)

161

COPY NUMBER VARIATIONS UNDERLYING IL-12RΒ1 DEFICIENCY IN FIVE UNRELATED KINDREDS J. Rosain, C. Oleaga-Quintas, H. Verdin, S. Marot, G. Syridou, M. Mansouri, S.A. Mahdaviani, M. Tsolia, M. Mesdaghi, L. Chernyshova, Y. Stepanovskiy, N. Parvaneh, D. Mansouri, S. Pedraza-Sánchez, L. Abel, L. Blancas Galicia, E. De Baere, C. Bole-Feysot, J.L. Casanova, J. Bustamante (France)

307

CLINICAL AND GENETIC PROFILES OF PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA FROM SOUTHEAST TURKEY: NOVEL MUTATIONS IN BTK GENE D. Doğruel, M. Serbes, A.Ş. Şaşihüseyinoğlu, M. Yılmaz, D.U. Altıntaş (Turkey)

308

TARGETED MULTIGENE SEQUENCING IN DIAGNOSIS OF PRIMARY IMMUNODEFICIENCY: A SINGLE CENTER EXPERIENCE E. Suspitsin, M. Guseva, M. Kostik, M. Makhova, I. Bizin, A. Sokolenko, E. Imyanitov (Russia)

309

IMMUNE DYSREGULATION & AUTOIMMUNITY

Poster Board Number

INTRAUTERINE GROWTH RESTRITION INDUCED BY MATERNAL LOW-PROTEIN DIET DURING PREGNANCY IS ASSOCIATED WITH ALTERATIONS OF INTRATHYMIC THYMOCYTE DISTRIBUTION IN OFFSPRING J.B. Armengaud, D. Labes, F. Sala de Oyanguren, F. Angelini, F. Candotti, M. Hofer, B. SIddeek, C. Yzydorczyk, U. Simeoni (Switzerland)

162

EVALUATION OF INFECTIOUS AND NON-INFECTIOUS COMPLICATIONS IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY M.H. Asgardoon, A. Aghamohammadi (Iran)

163

CARMIL2 SPLICE SITE MUTATION IN PATIENTS WITH WARTS F. Atschekzei, R. Jacobs, G. Ahrenstorf, R.E. Schmidt (Germany)

164

TREATMENT WITH RAPAMYCIN RESTORES REGULATORY T CELL FUNCTION IN IPEX SYNDROME F. Barzaghi, L. Passerini, C. Sartirana, R. Curto, G. Barera, L. Albarello, A. Mariani, E. Bazzigaluppi, V. Lampasona, E. Bosi, S. Olek, F. Tucci, M.P. Cicalese, M.E. Bernardo, E. Gambineri, O. Neth, M.G. Roncarolo, A. Aiuti, R. Bacchetta (Italy)

165

FLOW CYTOMETRY DETECTION OF PERFORIN MUTATION IN FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 2: A CASE REPORT B. Belaid, N. Tounsi, B. Habireche, A. Rarbo, R. Djidjik (Algeria)

166

AUTOIMMUNITY AND IMMUNOLOGICAL PROFILE IN TURNER SYNDROME – A SINGLE CENTER STUDY. E. Berdej-Szczot, A. Gawlik, D. Blat, R. Klekotka, T. Gawlik, E. Błaszczyk, M. Hankus, E. Malecka-Tendera (Poland)

167

CHARACTERIZATION OF GASTROINTESTINAL TRACT PATHOLOGY IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY DISORDER R. Khan, M. Habbal, M. Scaffidi, A. Burkhari, A. Rumman, S. Alghamdi, S. Grover, S. Betschel (Canada)

168

REVERSIBLE HYPOGAMMAGLOBULINEMIA CAUSED BY CELIAC DISEASE: IMPORTANCE IN THE DIFFERENTIAL DIAGNOSIS OF COMMON VARIABLE IMMUNODEFICIENCY B. Bonaci-Nikolic, M. Nikolic, R. Mijanovic, S. Andrejevic (Serbia)

169

IMPACT OF TREATMENT WITH IL12 / IL23 MONOCLONAL ANTIBODY IN A PATIENT WITH SEVERE PSORIASIS AND LATE-ONSET COMBINED PRIMARY IMMUNODEFICIENCY - CASE REPORT L. Carneiro, D. Pereira, B. Cordeiro, M. Morgado de Abreu, E. Roncada, D. Vasconcelos (Brazil)

170

SEVERAL RELAPSING EYELID EDEMA SUGGESTING A GLEISCH SYNDROM: À PROPOS 1 CASE. G. Chalhoub (France)

171

TARGETED THERAPY WITH SIROLIMUS IN A PATIENT WITH RECURRENT OTITIS , SINUSITIS AND LYMPHOPROLIFERATIVE DISORDER AND GAIN OF FUNCTION MUTATION IN PIK3 CD M.T. Arzanian, B.S. Shamsian, S. Eskandarzadeh, M. Keramatipour, M. Saberi, M. Mesdaghi, N. Eslami, Z. Chavoshzadeh (Iran)

172

FOLLICULAR HELPER T CELLS ARE UNABLE TO INSTRUCT HUMORAL RESPONSES IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY AND AUTOIMMUNITY M.P. Cicalese, J. Gerosa, I. Brigida, M. Zoccolillo, M. Omrani, F. Barzaghi, A. Aiuti, G. Fousteri (Italy)

173

HEMATOLOGICAL CYTOPENIAS AS A NEW WARNING SIGN OF PRIMARY IMMUNODEFICIENCY DISORDERS (PIDDS) S. Ciullini Mannurita, M. Bagni, E. Attardi, M.L. Coniglio, M. Vignoli, E. Schiavo, F. Tucci, M. Veltroni, C. Favre, E. Gambineri (Italy)

174

ACUTE SENSORY AXONAL PERIPHERAL NEUROPATHY IN A PATIENT AFFECTED BY COMMON VARIABLE IMMUNODEFICIENCY: AN UNUSUAL ASSOCIATION F. Conti, S. Di Cesare, G. Di Matteo, M. Valeriani, P. Zangari, N. Cotugno, P. Rossi, P. Palma, C. Cancrini, A. Finocchi (Italy)

175

REFRACTORY/RELAPSED AUTOIMMUNE CYTOPENIAS IN PRIMARY IMMUNODEFICIENCY DISEASES C. Giancotta, F. Conti, S. Di Cesare, G. Di Matteo, C. Cifaldi, D. Amodio, M. De Luca, M. Chiriaco, G. Palumbo, P. Palma, P. Rossi, A. Finocchi, C. Cancrini (Italy)

176

AUTOIMMUNITY AND ITS ASSOCIATION WITH T CELL AND B CELL SUBSETS ABNORMALITIES IN PATIENTS WITH DEL22Q11.2 SYNDROME C. Giancotta, F. Conti, S. Di Cesare, D. Amodio, M.C. Digilio, P. Rossi, C. Cancrini (Italy)

177

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN A SEVERE CASE OF NFKB2 DEFICIENCY: FIRST REPORT IN LITERATURE F. Conti, P. Merli, S. Di Cesare, A. Deodati, M. Algeri, R.M. Pinto, P. Rossi, C. Cancrini, F. Locatelli (Italy)

178

A SINGLE AMINO ACID CHANGE IN PERFORIN-1: TWO PATIENTS WITH SEVERE AND RECURRENT HLH V. Cunill, Á. Molina-Fuentes, M.D.L.R. Jiménez, J. Iglesias, M.Á. Estévez, V. Daza-Cajigal, C. Gual, C. Ballester, A. Durán, N. Martínez-Pomar (Spain)

179

AUTOIMMUNE MYELOFIBROSIS IN A PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY V. Daza, L. Lo Riso, M. Garcia, V. Cunill, J. Iglesias, N. Martinez, J. Ferrer, A. Quintero, R. Ramos, A. Sampol, J. Pons (Spain)

180

RHEUMATOID ARTHRITIS AND NEOPLASIA: RISK FACTOR? OR COINCIDENCE. A PORTUGUESE COHORT M. Duarte, J. Figueira, M. Xavier Ferreira (Portugal)

181

CLARIFYING THE SPECIFICITY OF THE AUTOIMMUNE RESPONSE IN IPEX D. Eriksson, R. Bacchetta, H.I. Gunnarsson, F. Barzaghi, S. Ehl, Å. Hallgren, F. Sardh, C. Lundqvist, O. Ekwall, O. Mäkitie, S. Bensing, M. Anderson, O. Kämpe, N. Landegren (Sweden)

182

MOLECULAR DEFECTS OF NFKB1 AND NFKB2 MUTATIONS IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY M. Fliegauf, K. Hübscher, J. Rojas-Restrepo, N. Frede, A. Bulashevska, M. Proietti, T. Lorenzini, C. Klemann, R.

183

Kobbe, F. Atschekzei, R.E. Schmidt, N. Brauer, C. Cunningham-Rundles, L. Alsina, W. Rae, C. Roifman, P. Stepensky, C. Slade, A. Shcherbina, S.O. Burns, W. Ip, N. Romberg, T.R. Leahy, R. Sherkat, M. Varjosalo, M. Seppanen, L. Hammarstrom, K. Warnatz, B. Grimbacher (Germany)

TRICHO-HEPATO- ENTERIC SYNDROME MAY MIMIC SEVERE COMBINED IMMUNODEFICIENCY- A REPORT OF 2 CASES M. Klaudel, P. Socha, B. Piatosa (Poland)

184

CLINICAL AND SEROLOGICAL ANALYSIS OF THE ICELANDIC SELECTIVE IGA DEFICIENCY COHORT A.L. Lemarquis, I. Karnsund, H.K. Einarsdottir, B.R. Ludviksson (Iceland)

185

ACQUIRED HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS IN PATIENTS WITH INFLAMMATORY BOWEL DISEASE: VIRUS-TRIGGERED DISEASE WITHOUT TENDENCY TO RECUR S.L. Maier, U. Zur Stadt, M. Nathrath, W. Eberl, T. Ebeling, A. Sauerbrey, B. Burkhardt, S. Jedwilayties, M. Laass, T. Niehues, G. Janka, S. Ehl, I. Mueller, K. Lehmberg (Germany)

186

THE ROLE OF STAT3 IN ERYTHROPOIESIS A. Mauracher, J. Eekels, J. Woytschak, S. Prader, M. Felber, A. Van Drogen, L. Opitz, J. Trück, M. Heeg, A. Klocperk, K. Kotsoni, M. Gstaiger, M.G. Kanariou, S. Ehl, A. Sediva, O. Boyman, M. Schmugge, S. Vavassori, J. Pachlopnik Schmid (Switzerland)

187

IMMUNE-DYSREGULATION IN GAUCHER DISEASE. AN OVERLAP WITH ALPS FEATURES. M. Miano, A. Madeo, E. Palmisani, F. Fioredda, P. Terranova, A. Pezzulla, F. Pierri, M. Calvillo, T. Lanza, E. Cappelli, A. Beccaria, R. Maggiore, A. Rotulo, C. Dufour, C. Micalizzi, M. Di Rocco (Italy)

188

SEVERE INFECTIOUS MONONUCLEOSIS IN A 13-YEAR-OLD BOY WITH X-LINKED LYMPHOPROLIFERATIVE DISEASE (XLP) CAUSED BY SH2D1A MUTATION A.C. Moura Falcao, P. Teixeira Lyra, L. Torres, E. Souza, J.B. Oliveira Filho, J. Folloni Fernandes (Brazil)

189

GRANULOMATOUS LYMPHOCYTIC INTERSTITIAL LUNG DISEASE (GLILD) IN CHILDREN Z. Nademi, G. Davies, L. Devlin, R. Chavasse, C. Wallis, V. Pavasovic, J. Maimaris, G. Doherty, K. Gilmour, A. Worth (United Kingdom)

190

ATAXIA TELANGIECTASIA COMPLICATED WITH JUVENILE IDIOPATHIC ARTHRITIS D. Nouar, C. Hoarau (France)

191

FREQUENCY AND PROGNOSIS IMPACT OF HYPER IGM SYNDROME IN PATIENTS WITH ATAXIA TELEANGIECTASIA SYNDROME M. Ouederni, S. Jouhari, M. Ben Khaled, S. Rekaya, R. Kouki, N. Dhouib, F. Mellouli, M. Bejaoui (Tunisia)

192

AUTOIMUNE LYMPHOPROLYPHERATIVE SYNDROME : PHENOTYPE OR DISEASE? E. Palmisani, F. Fioredda, M. Miano, T. Lanza, P. Terranova, M. Lanciotti, S. Zanardi, E. Mastrodicasa, A. Barone, S. Cesaro, E. Facchini, S. LaDogana, U. Ramenghi, N. Crescenzio, I. Ceccherini, A. Grossi, A. Chiocchetti, C. Dufour, F. Fioredda (Italy)

193

PREDICTION MODELS IN HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS: A SYSTEMATIC REVIEW N. Radhakrishnan, V. Dinand (India)

194

LYMPHOPROLIFERATION IN PATIENT WITH PRIMARY IMMUNODEFICIENCY (CVID) S. Raffac, J. Gabzdilova (Slovak Republic)

195

TRANSCRIPTIONAL DYSREGULATION OF CVID PATIENTS HARBORING C104R TNFRSF13B MUTATION N. Ramirez, N. Langer, C. Bossen, B. Grimbacher (Germany)

196

INFANTILE, VERY-EARLY ONSET INFLAMMATORY BOWEL DISEASE (VEO-IBD). A SINGLE-CENTRE COHORT. A.P. Rocha, M. Borges, A.I. Cordeiro, C. Neves, F. Santos, H. Flores, I. Afonso, S. Nejentsev, J. Cabral, J. Farela Neves (Portugal)

197

CLINICAL FEATURES AND IMMUNOLOGICAL DEFECTS IN A GROUP OF RUSSIAN PATIENTS WITH KABUKI SYNDROME. Y. Rodina, S. Vakhlyarskaya, D. Yukhacheva, E. Viktorova, O. Shvets, I. Abramova, A. Muhina, N. Kuzmenko, V. Zakharova, A. Pavlova, R. Abasov, E. Suspitsin, E. Raykina, I. Kondratenko, A. Shcherbina (Russia)

198

STAT1 GOF WITH NORMAL STAT1 PHOSPHORYLATION E. Sampaio, N. Dwyer, L. Rosen, L. Ding, B. Marciano, C. Zerbe, S. Holland (USA)

199

IMMUNOLOGICAL DISORDERS IN DOWN SYNDROME IN A PEDIATRIC REFERENCE CENTER S. Scheffler-Mendoza, C. Garcia-Najera, K. Flores-Arizmendi, F.E. Rivas-Larrauri, E. Medina-Torres, J.C. Bustamente-Ogando, L. Berron-Ruiz, S. Espinosa-Padilla, M.A. Yamazaki-Nakashimada (Mexico)

200

LIFE-THREATENING HEMOLYTIC ANEMIA: A HINT FOR STAT3 GOF MUTATION? M. Bagni, E. Schiavo, S. Ciullini Mannurita, E. Attardi, M. Vignoli, M.C. Sanvito, V. Tintori, S. Frenos, A. Tondo, I. Fotzi, A. Azzali, L. Luti, S. Ermini, C. Favre, E. Gambineri (Italy)

201

CVID-LIKE PRESENTATION DUE TO B-CELL CLASS SWITCHING DEFECT AND HYPOGAMMAGLOBULINEMIA IN AN EXTENDED FAMILY OF IPEX SYNDROME O. Shamriz, K. Patel, L. Lucas, B.B. Pencheva, L. Kobrynski, S. Chandrakasan (Israel)

202

ENTEROPATHY AND DISTURBED ADAPTIVE MUCOSAL IMMUNITY DUE TO MHC CLASS II DEFICIENCY C. Posovszky, M. Sirin, E. Jacobsen, K. Schwarz, A. Schmidt-Choudhury, T. Rothoeft, C. Schütz, M. Hönig, K.M. Debatin, P. Möller, A. Schulz, T. Barth (Germany)

203

BACH2 HAPLOINSUFICIENCY CAUSED BY A NOVEL VARIANT IN A PATIENT WITH EVANS SYNDROME M. Svaton, V. Kanderova, T. Milota, J. Soukupova Maaloufova, R. Kremlikova Pourova, M. Bloomfield, A. Sediva, T. Kalina, J. Stary, J. Trka, E. Fronkova (Czech Republic)

204

A NOVEL CTLA-4 MUTATION IN A 14 YEAR OLD GIRL WITH BRONCHIECTASIS, AUTOIMMUNE ENTEROPATHY AND POOR GROWTH S. Swamy, P. Hsu (Australia)

205

GENETIC CHARACTERIZATION OF VERY EARLY ONSET IBD WITH NEXT GENERATION SEQUENCING TECHNOLOGIES. S. Lega, A. Pin, S. Arrigo, M. Girardelli, A. Barabino, M. Aloi, G. Magazzù, C. Romano, E.F. Stacul, M. Bramuzzo, S. Martelossi, A. Tommasini, A.M. Bianco (Italy)

206

IMMUNOLOGICAL AND CLINICAL FEATURES ASSOCIATED WITH DUODENAL VILLOUS ATROPHY IN COMMON VARIABLE IMMUNODEFICIENCY S. Unger, A. Klocperk, O. Cabral Marques, C. Von Spee-Mayer, M. Seidl, D. Friedmann, S. Gutenberger, I. Harder, U. Salzer, P. Hasselblatt, K. Warnatz (Germany)

207

SOIL OF RAPA NUI ISLAND MEETS SPLEEN: ROLE OF RAPALOGUES IN THE MANAGEMENT OF PI3K GOF PATIENTS G. Uzel, S. Webster, K. Williams, F. Thomas, L. Folio, S. Tangye, V.K. Rao (USA)

208

MULTIPARAMETRIC FOLLOW-UP OF TREATMENT RESPONSE IN CVID-ASSOCIATED LYMPHOPROLIFERATION A. Van Eldere, S. Giovannozzi, I. Meyts, C. Breynaert, K. Goffin, D. Dierickx, M. Delforge, O. Gheysens, R. Schrijvers (Belgium)

209

DYSREGULATED ACTIN DYNAMICS IN ACTIVATED PI3KΔ SYNDROME J. Wallace, W. Córdova-Calderón, P. Zambrano-Rodas, S. Estrada-Turriate, D. Mendoza-Quispe, R. Geha, J. Chou, C. Platt (USA)

210

A PHASE I/IIA TRIAL ON LOW-DOSE IL-2 (ALDESLEUKIN) TREATMENT OF AUTOIMMUNE ENTEROPATHY IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY C. Von Spee-Mayer, D. Friedmann, S. Unger, S. Goldacker, M. Seidl, A. Schmitt-Graeff, K. Warnatz, C. Wehr (Germany)

211

OTHERS 1

Poster Board Number

THE DILEMMA OF TRANSPLANTING WISKOTT-ALDRICH SYNDROME PATIENTS OR NOT A. Alayoubi, B. Al saud, H. Almousa, H. Aldhekri, R. Arnaout, S. Almohsen, A. Mouhab, A. Al seraihi (Saudi Arabia)

212

HYPER IGM PATIENT WITH SUPERIMPOSED CRYPTOCOCCAL MENINGITIS INFECTION M. Albanyan, R. Arnaout (Saudi Arabia)

213

AUTOIMMUNE AND ALPS PHENOTYPE IN PROVED IL-12RΒ1 HOMOZYGOUS MUTATION- TREATMENT AND DIAGNOSIS CHALLENGES (CASE REPORT) H. Abd Ellateef (Egypt)

214

A PATIENT WITH TYK2 AND CFH MUTATIONS: RECURRENT SKIN AND CHEST S. Alshareef, M. Dasouki, A. Alazami, R. Arnaout (Saudi Arabia)

215

PROFILE OF DOUBLE-NEGATIVE T CELLS (CD45+CD3+CD4-CD8-) IN HIV-INFECTED POPULATION IN SANTOS CITY – BRAZIL. S. Aparecido Da Silva, C. Renata dos Santos Barros (Brazil)

216

HYPOGAMMAGLOBULINEMIA IN LUNG TRANSPLANT CANDIDATES C. Bravo, M. Arjona, B. Saez, C. Berastegui, M. Herrera, M. Lopez, V. Monforte, A. Roman (Spain)

217

MUCOLIPIDOSIS TYPE II (I-CELL) DISEASE AND AGAMMAGLOBULINEMIA H. Ucaryilmaz, A. Emsen, N. Kocak, H. Artac (Turkey)

218

JACOB'S SYNDROME PRESENTED WITH ECZEMA, FOOD ALLERGY AND AGAMMAGLOBULINEMIA H. Ucaryilmaz, A. Emsen, H. Tokgoz, S. Keles, T. Cora, U. Caliskan, H. Artac (Turkey)

219

MULTIDISCIPLINARY DEVELOPMENT OF AN ISOLATION PROTOCOL FOR PRIMARY IMMUNODEFICIENCY PATIENTS K. Barbieri, S. Ahmed-Winston, B. Hanisch, B. Davila-Saldana, M. Keller (USA)

220

LOW BONE MINERAL DENSITY AND MUSCLE MASS IN COMMON VARIABLE IMMUNODEFICIENCY PATIENTS: ASSOCIATION WITH CD4+T CELLS AND B CELLS C. Kokron, D. Barreto-de-Melo, R.M.R. Pereira, B. Sini, L. Takayama, A.K. Marinho, O. Grecco, J. Kalil, M.T. Barros (Brazil)

221

AUTOIMMUNITY IN PRIMARY IMMUNODEFICIENCIES – A SINGLE-CENTER COHORT STUDY M. Bataneant, M. Cucuruz, M. Baica, O. Belei, R. Stroescu, C. Serb, M. Pop, P. Urtila (Romania)

222

GENETIC FINDINGS OF A LARGE SERIES OF PRIMARY IMMUNODEFICIENCIES IN A HIGHLY CONSANGUINEOUS POPULATION I. Ben-Mustapha, N. Mekki, M. Ben-Ali, M.R. Barbouche (Tunisia)

223

PROTEIN-LOSING ENTEROPATHY AND LYMPHOCYTOPENIA DUE TO INTESTINAL LYMPHANGIECTASIA IN A PATIENT WITH NOONAN’S SYNDROME B. Biagioni, B. Paltere, E. Vivarelli, A. Matucci, A. Vultaggio, P. Parronchi (Italy)

224

GENOMIC ANALYSIS OF EARLY ONSET TYPE 1 DIABETES PATIENTS REVEALS AN ETIOLOGY RELATED TO PRIMARY IMMUNODEFICIENCIES I. Caramalho, P. Matoso, D. Sobral, J. Costa, D. Ligeiro, A.L. Fitas, C. Limbert, C. Penha-Gonçalves, J. Demengeot (Portugal)

225

EPSTEIN-BARR VIRUS OR CYTOMEGALOVIRUS INFECTION IN COMMON VARIABLE IMMUNE DEFICIENCY M. Carrabba, L. Baselli, G. Fabio (Italy)

226

A TALE OF TWO SISTERS: A NEW SYNDROME OF IGG2 AND IGM DEFICIENCY WITH DYSMORPHIC FEATURES? P. Cerci, S. Çolak, E. Özbek, A. Açıkgöz, G. Keskin, Ü. Ölmez (Turkey)

227

CLINICAL, IMMUNOLOGIC EVALUATION AND INVESTIGATION OF PRIMARY IMMUNE DEFICIENCY IN 47 PATIENTS WITH DISSEMINATED BCG S. Baradaran, Z. Chavoshzadeh Natanzi, R. Mansour ghenaei, A. Mahdaviani, M. Mesdaghi, A. Fahimzad, A. Karimi, S. Armin, S. Rafiei Tabatabaei, D. Babaei, M. Mansouri (Iran)

228

NUTRITIONAL STATUS IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY (CVID) Z. Chovancova, T. Lokajova, J. Litzman, J. Lokaj (Czech Republic)

229

CTLA-4 DEFICIENCY IN A 6-YEAR-OLD CHILD WITH MULTIPLE ORGAN AUTOIMMUNE DISEASE- CASE REPORT M. Cienkusz, K. Drabko, M. Lejman, K. Wojciechowska, J. Kowalczyk (Poland)

230

GASTRODUODENAL DISORDERS IN PATIENTS WITH CVID UNDERGOING IMMUNOGLOBULIN THERAPY L. Crescenzi, A. Pecoraro, G. Varricchi, G. Marone, A. Travaglino, F.P. D'Armiento, A. Genovese, G. Spadaro (Italy)

231

CLINICAL PHENOTYPE OF COMMON VARIABLE IMMUNODEFICIENCY PACIENTS DIAGNOSED AFTER AGE OF 40. J. Fernandes, L. Cunha, F. Santos, J. Nunes, Y. Kashiwabara, R. Souza, F. Cruz, J. Pinto (Brazil)

232

A CASE OF ADULT ONSET AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME V. Pedini, C. Gelardi, D. Benfaremo, P. Cardinaletti, A. Gabrielli, M.G. Danieli (Italy)

233

A CASE OF NON-CIRRHOTIC PORTAL HYPERTENSION DUE TO CVID-ASSOCIATED GRANULOMATOUS DISEASE: DIAGNOSIS AND CLINICAL MANAGEMENT D. Menghini, V. Pedini, M. Allevi, C. Gelardi, A. Gabrielli, M.G. Danieli (Italy)

234

IS THERE A ROLE FOR SUBCUTANEOUS IMMUNOGLOBULIN IN CANCER? C. Gelardi, D. Menghini, L. Marconi, V. Pedini, A. Gabrielli, M.G. Danieli (Italy)

235

NONISCHEMIC DILATED CARDIOMYOPATHY IN A PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY V. Daza, M. Estevez, A. Quintero, C. Saus, A. Grau, E. Sala, J. Pons (Spain)

236

SKIN DISORDERS IN PRIMARY IMMUNODEFICIENCY DISEASES: A DUTCH QUESTIONNAIRE-BASED STUDY J. De Wit, V.A.S.H. Dalm, F.Y. Van Osnabrugge, S.G.M.A. Pasmans (The Netherlands)

237

NEUROMUSCULAR ANOMALIES IN ATASSIA-TELEANGECTASIA: CLINICAL AND ELECTROPHYSIOLOGICAL STUDY IN FIVE PATIENTS M. Cazzaniga, A.M. Cappellari, L. Dell'Era, L.A. Baselli, C. Barsalini, R.M. Dellepiane (Italy)

238

DIFFICULT LONG-TERM MANAGEMENT OF RENAL TRANSPLANTATION IN COMMON VARIABLE IMMUNODEFICIENCY M. Di Natale, M.A. Mejia Gonzalez, E. Sarmiento, J. Navarro, M. Rodriguez-ferrero, E. Fernandez-Cruz, J. Carbone (Spain)

239

NFKB1 DEFICIENCY LEADS TO A TH1-SKEWED PROFILE AND OVEREXPRESSION OF PROINFLAMMATORY CYTOKINES IN A PATIENT WITH CVID AND SEVERE GASTROINTESTINAL MANIFESTATIONS R. Dieli Crimi, M. Martínez-Gallo, C. Franco-Jarava, A. Maria, I. Paramonov, A. Álvarez Fernández, X. Molero, J. Velázquez, A. Martín-Nalda, R. Pujol-Borrell, R. Colobran (Spain)

240

HYPER-IGE DISORDER IN A PATIENT WITH LATE-ONSET PROLIDASE DEFICIENCY L. Dotta, I. Fracassetti, P. Tanghetti, T. Lorenzini, R. Ciccone, R. Badolato (Italy)

241

PERSISTENCE OF ATOPIC MANIFESTATIONS IN DOCK 8 PATIENTS POST HEMATOPOIETIC STEM CELL TRANSPLANTATION (HSCT) S. Elshourbagi, S. Munshi, R. Arnaout, H. Almousa, B. Alsaud, H. Aldhekri, S. Almuhsen, A. Alghonaium, A. Alseraihy, M. Ayas, A. Alahmari, H. Alsaedi (Saudi Arabia)

242

INFLAMMATORY BOWEL DISEASE IN MEXICAN PATIENTS WITH WISKOTT ALDRICH SYNDROME R. Lee, M.I. Espinosa-Navarro, S.C. Scheffler-Mendoza, M.A. Yamazaki-Nakashimada (Mexico)

243

CLINICAL AND IMMUNOLOGICAL CHARACTERIZATION OF OMENN SYNDROME PATIENTS IN MEXICO M. Espinosa, J. Barroso-Santos, S.E. Espinosa-Padilla, M.A. Yamazaki-Nakashimada, M.E. González-Serrano, M.E. Nuñez Nuñez, H. Acuña Martínez (Mexico)

244

A COMBINED IMMUNODEFICIENCY WITH SEVERE ECZEMA, AUTOIMMUNITY, LYMPHOPROLIFERATION, SEVERE MYCOBACTERIAL, BACTERIAL AND VIRAL INFECTIONS, SIMULATING OTHER WELL DESCRIBED SYNDROMES M. Espinosa, J. Barroso-Santos, S. Espinosa-Padilla, M.A. Yamazaki-Nakashimada, S. Lugo-Reyes (Mexico)

245

FINDING THE INCIDENCE OF MUCORMYCOSIS IN IMMUNOCOMPROMISED PATIENTS. A. Fatima, S.S.A. Zaidi (Pakistan)

246

IPSC-DERIVED NEURONS AS AN IN VITRO MODEL FOR THE STUDY OF INTERFERONOPATHIES WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT R.M. Ferraro, S. Masneri, G. Lanzi, P.S. Ginestra, C. Barisani, E.A.M. Ali, D. Vairo, G. Piovani, G. Savio, A. Soresina, J. Galli, E. Ceretti, E. Fazzi, M. Cattalini, S. Giliani (Italy)

247

WOLMAN DISEASE PRESENTING WITH HLH: A CASE REPORT S. Fitzgerald, E. Crushell, J. Hughes, P. Gavin, K.M. Butler, T.R. Leahy (Ireland)

248

OCCULT HEPATITIS B VIRUS INFECTION AMONG HUMAN IMMUNODEFICIENCY VIRUS-INFECTED PATIENTS N. Furusyo, M. Murata, F. Kaseida-Mitsumoto (Japan)

249

LATE-ONSET ADENOSINE DEAMINASE DEFICIENCY PRESENTING WITH HODGKIN LYMPHOMA M. Garcia-Prat, G. Vila-Pijoan, C. Franco-Jarava, M. Martínez-Gallo, R. Colobran, J. Rivière, A. Martin-Nalda, P. Soler-Palacin (Spain)

250

AUTOIMMUNE AND INFLAMMATORY MANIFESTATIONS IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY M. Yıldırım Kaplan, Ö. Akçal, S. Özen, N. Gülez, F. Genel (Turkey)

251

PRIMARY IMMUNODEFICIENCY DISEASE AND ASSOCIATED COMORBIDITIES B. Geng, H. Wangberg (USA)

252

DIGITAL DROPLET PCR FOR TRECS AND KRECS EVALUATION ON ENRICHED CD3 AND CD19 POPULATION TO MONITOR PATIENTS AFTER TREATMENT S. Giannelli, F. Dionisio, C. Sartirana, F.A. Salerio, F. Barzaghi, B.A. Mazzi, G.E. Marcovecchio, M.P. Cicalese, A. Aiuti (Italy)

253

EFFECTIVE PUBLIC ADVOCACY AND FIGHTING FOR PATIENTS’ RIGHTS – THE MEANING OF TRAINING AND EDUCATION OF PAG’S LEADERS B. Prandzioch, A. Górecki (Poland)

254

PRIMARY IMMUNODEFICIENCIES RELATED BRONCHIECTASIS : CHARACTERISTICS AND EVOLUTION H. Goussault, E. Catherinot, N. Mahlaoui, H. Salvator, M.L. Chabi, A. Fischer, F. Suarez, E. Rivaud, O. Lortholary, C. Tcherakian, P. Devillier, L.J. Couderc (France)

255

LONG-TERM SURVIVAL IN TWO SISTERS WITH MAJOR HISTOCOMPATIBILITY CLASS II DEFICIENCY N. Guirat, R. Kouki, M. Ouederni, M. Ben Khaled, F. Mellouli, M. Bejaoui (Tunisia)

256

THE EFFECT OF HYPER IMMUNOGLOBULIN M (HIGM) PHENOTYPE ON THE PROGNOSIS OF ATAXIA TELANGIECTASIA (AT) S. Haskologlu, C. Aytekin, S. Bal, C. Islamoglu, F. Dogu, A. Ikinciogulları (Turkey)

257

BACILLUS CALMETTE GUERIN (BCG) VACCINE MORBIDITY FOLLOWING HEMATOPOETIC STEM CELL TRANSPLANTATION (HSCT) IN PATIENTS WITH COMBINED IMMUNODEFICIENCIES (CIDS) S. Sevinc, S. Haskologlu, S. Bal, C. Islamoglu, F. Dogu, A. Ikinciogulları (Turkey)

258

ARE PROTEINS OF THE DEGRANULATION MACHINERY REQUIRED FOR RUBELLA VIRUS CONTROL IN THE SKIN? M. Heizmann, S.L. Maier, C. Speckmann, B. Tesi, C. Khurana, N. Naumann-Bartsch, A. Agaimy, D. Huzly, Y.T. Bryceson, A. Schmitt-Graeff, K. Lehmberg, S. Ehl (Germany)

259

IGA FAMILY DEFICIENCY ASSOCIATED TO 22Q11.2 DELETION SYNDROME D.F. Ionescu, C. Fusi Velarde, J.A. Garcia Trujillo, S. Romero Chala, I. Tovar Garcia, C. Camara Hijon, L.M. Fernandez Pereira (Spain)

260

PRIMARY IGM-DEFICIENCY: HOW OFTEN IS IT TRULY SELECTIVE? THE SIMCAL-STUDY L.M. Janssen, E. De Vries, The SIMcal consortium (The Netherlands)

261

PEDIATRIC RECURRENT POST-HERPETIC ERYTHEMA MULTIFORME: A CASE REPORT A. El Kettani, F.Z. Elfatoiki, F. Ailal, L. Jeddane, J. El Bakkouri, S. Chiheb, A.A. Bousfiha (Morocco)

262

ATYPICAL PRESENTATION OF RAG1 DEFICIENCY AS AUTOIMMUNE HEMOLYTIC ANEMIA IN CHILDHOOD H. Kapakli, H. Tokgoz, S. Keles, S.N. Guner, I. Reisli, U. Caliskan, L.D. Notarangelo (Turkey)

263

DETECTION OF INTRAUTERINE DCLRE1C (ARTEMIS) MUTATION M.A. Karaselek, H. Kapaklı, S. Keleş, Ş.N. Güner, E. Kurar, İ. Reisli (Turkey)

264

A NOVEL DEFECT IN IGHM GENE IN A CASE OF NON-BTK AGAMMABLOBULINEMIA O. Ulgen, E. Nain, A. Kıykım, N. Kasap, S. Bilgic Eltan, R. Geha, A. Ozen, S. Barıs, E. Karakoc-Aydiner (Turkey)

265

HAEMATOPOIETIC STEM CELL TRANSPLANTATION IN PRIMARY IMMUNODEFICIENCIES: A PORTUGUESE HOSPITAL AUDIT R. Figueiredo, A. Fernandes, C. Teixeira, F. Campilho, A. Campos, L. Marques (Portugal)

266

CLINICAL AND IMMUNOLOGICAL CHARACTERIZATION OF EGYPTIAN PATIENTS WITH DOCK8 DEFICIENCY A. Eldash, S. Meshaal, R. El Hawary, N. Galal, J. Boutros, D. Abdelaziz, S. Mahmoud, A. ElMarsafy (Egypt)

267

CHRONIC LUNG DETERIORATION IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY: CORRELATION OF SPIROMETRY VALUES WITH IMMUNOPHENOTYPIC PROFILE AND CYTOKINE LEVELS R. Mijanovic, S. Andrejevic, V. Perovic, B. Bonaci-Nikolic (Serbia)

268

T CELL BIOLOGY

Poster Board Number

SEVERE COMBINED IMMUNODEFICIENCY: THE GENETIC PATTERN IN HIGH CONSANGUINEOUS POPULATION, SINGLE CENTER EXPERIENCE D. Abd Elaziz, S. Meshaal, R. El Hawary, S. Lotfy, A. Eldash, R. Alkady, N. Galal, J. Boutros, A. Elmarsafy (Egypt)

269

TWO COMBINED IMMUNODEFICIENT SIBLINGS WITH DOCK2 DEFICIENCY O. Akcal, S. Ozen, R. Torun, N. Gulez, F. Genel, K. Boztug (Turkey)

270

LATE-ONSET COMBINED IMMUNODEFICIENCY CRITERIA IDENTIFY A SUBSET OF COMMON VARIABLE IMMUNODEFICIENCY PATIENTS WITH A HIGH RATE OF MONOGENIC DIAGNOSES A. Albuquerque, F. Moreira, M. Buckland, D. Lowe, S. O. Burns (United Kingdom)

271

CLINICAL AND LABORATORY FEATURES OF SEVENTY UK PATIENTS WITH GOOD SYNDROME (THYMOMA AND HYPOGAMMAGLOBULINEMIA) M. Zaman, C. Bangs, A. Huissoon, S. Burns, M. Buckland, S. Patel, H. Baxendale, H. Alachkar, D. Edgar, M. Thomas, G. Arumugakani, A. Williams, S. Jolles, R. Herriot, S. Ravishankar, P. Arkwright (United Kingdom)

272

MATERNAL T-CELL INTERFERES WITH HLA TYPING IN SEVERE COMBINED IMMUNODEFICIENCY PATIENTS I. Benhsaien, J. Elbakkouri, F. Ailal, A. Badou, A.A. Bousfiha (Morocco)

273

INDIVIDUAL APPROACH TO PATIENTS WITH 22Q11.2 DELETION SYNDROME O. Boyarchuk, L. Volyanska, M. Kinash, T. Hariyan, L. Dmytrash (Ukraine)

274

RELATIONSHIP BETWEEN CLONAL REARRANGEMENT TCR GAMMA, AUTOIMMUNITY AND CANCER DEVELOPMENT: À PROPOS 1 CASE G. Chalhoub (France)

275

FUNCTIONAL HETEROGENEITY OF SKIN RESIDENT T CELLS IN PSORIASIS AND VITILIGO S. Cheuk, I. Gallais Serezal, L. Eidsmo (Sweden)

276

CID PATIENT WITH INCREASED NAÏVE T CELLS AND MATURATIVE BLOCKAGE IN CELL DEVELOPMENT. C. Cifaldi, S. Di cesare, M. Chiriaco, I. Brigida, M. Zoccolillo, F. Conti, D. Petricone, P. Rossi, A. Simonetti, A. Aiuti, G. Di Matteo, C. Cancrini (Italy)

277

A MULTICENTRIC SURVEY ON PATIENTS AFFECTED WITH SEVERE COMBINED IMMUNODEFICIENCY: FIRST REPORT OF THE ITALIAN PRIMARY IMMUNODEFICIENCY NETWORK (IPINET) E. Cirillo, C. Cancrini, C. Azzari, S. Martino, B. Martire, A. Pession, A. Tommasini, A. Finocchi, R. Consolini, P. Pierani, M.C. Putti, G. Giuliana, V. Gallo, A. Scarselli, E. Attardi, S. Ricci, D. Montin, F. Specchia, F. Barzaghi, M.P. Cicalese, F. Locatelli, P. Rossi, A. Aiuti, A. Plebani, C. Pignata (Italy)

278

GENOMIC, PHENOTYPIC AND IMMUNOLOGICAL FEATURES OF PATIENTS WITH DIGEORGE PHENOTYPE WITHOUT 22Q11.2 DELETION E. Cirillo, G. Giardino, V. Gallo, M.R. Prencipe, F. Grasso, L. Palamaro, R. Romano, F. Esposito, C. Fonderico, M. Cocule, C. Pignata (Italy)

279

T-CELL LYMPHOPENIA IN AN ADULT PATIENT WITH MIRAGE SYNDROME DUE TO A NOVEL MUTATION OF SAMD9 L. Dotta, I. Fracassetti, P. Tanghetti, F. Todaro, M. Pinelli, R. Ciccone, R. Badolato (Italy)

280

PHENOTYPIC AND FUNCTIONAL DEFECTS UNDERLIE INEFFECTIVE CONTROL OF EPSTEIN-BARR VIRUS IN PATIENTS WITH DISTINCT PRIMARY IMMUNODEFICIENCIES E. Edwards, G. Davies, G. Ducker, T. Niehues, H. Abolhassani, L. Hammarstrom, S. Choo, P. Gray, A. McLean-Tooke, M. Cook, E. Gostick, D.A. Price, S. Boisson-Dupuis, J.L. Casanova, G. Uzel, S. Tangye (Australia)

281

IMMUNOPHENOTYPIC PROFILE OF CD4+ T-LYMPHOCYTOPENIA IN NON-HIV CHILDREN J. El Bakkouri, I. Benhsaien, L. Jeddane, A. Badou, F. Ailal, A.A. Bousfiha (Morocco)

282

MATERNAL BREAST MILK INTERLEUKIN-7 EXPRESSION IN RELATION TO THYMUS GLAND DEVELOPMENT IN INFANCY R. El-Owaidy, E. Hossny, D. El-Ghoneimy, M. Mansour, M. Hamza, A. El-Said (Egypt)

283

A NEW CASE OF APDS2 PRESENTING WITH ALPS-LIKE PHENOTYPE B. Djurdjevic-Banjac, D. Lawless, S. Savic, Z. Eric (Bosnia - Herzegovina)

284

A NUDE SCID PATIENT WITH CMV PNEUMONIA C. Islamoglu, S. Haskologlu, S. Köstel Bal, S. Ceylaner, F. Doğu, A. Ikinciogullari (Turkey)

285

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 MUTATION ASSOCIATED WITH REFRACTORY CMV INFECTION, HYPOTONIA AND AUTOIMMUNITY N. Karaca, R.J. Heredia, G. Aksu, E. Azarsiz, K. Boztug, N. Kutukculer (Turkey)

286

DOCK8-LIKE IMMUNE DEFICIENCY DUE TO BIALLELIC CARMIL2 (RTLPR) MUTATIONS N. Kasap, E. Karakoc-Aydiner, L.M. Charbonnier, A. Kiykim, E. Nain, O. Ahmet, T. Chatila, S. Baris (Turkey)

287

THE IMPORTANCE OF EARLY DIAGNOSIS AND MANAGEMENT OF SCID DUE TO ADA DEFICIENCY; CASE REPORT N. Kasap, N.B. Yilmaz, A. Kiykim, S. Baris, A. Ozen, E. Karakoc-Aydiner (Turkey)

288

LOWER T REGULATORY AND TH17 CELL POPULATIONS ESTIMATED BY RT-PCR-AMPLIFIED FOXP3 AND RORΓT TRANSCRIPTORS ARE COMMON IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES W.I. Lee, J.L. Huang, S.J. Lin, K.W. Yeh, L.C. Chen, L.S. Ou, T.C. Yao, T.H. Jaing (Taiwan R.O.C.)

289

PERSISTENCE OF MATURATIONAL AND FUNCTIONAL T CELL DEFECTS IN ADOLESCENCE AND ADULTHOOD IN PATIENTS WITH DOWN SYNDROME V. Lougaris, M. Baronio, L. Gazzurelli, T. Lorenzini, M. Cutri, L. Grazzani, A. Pilotta, A. Soresina, R. Badolato, D. Vairo, S. Giliani, D. Moratto, A. Plebani (Italy)

290

PRESENCE OF LOW AFFINITY ANTI-NEUTROPHIL IGG ANTIBODIES IN A CASE OF CD40LG DEFICIENCY H. Tenstad, U. Hartling, C. Nielsen, M. Jakobsen, K. Nielsen, K. Assing (Denmark)

291

TWO SUBLINGS WHO HAD DIFFERENT CLINICAL PRESENTATIONS WITH DNA LIGASE 4 MUTATION S. Özen, O. Akcal, N. Gulez, F. Genel (Turkey)

292

T LYMPHOCYTES IN PATIENTS WITH NBS DEMONSTRATE FEATURES OF BOTH SENESCENCE AND EXHAUSTIONS B. Piątosa, B. Wolska-Kuśnierz, K. Tkaczyk, E. Heropolitańska-Pliszka, U. Grycuk, B. Pietrucha, H. Gregorek (Poland)

293

NOVEL MOSAIC IL2RG MUTATION WITH AUTOSOMAL DOMINANT PRRT2 RELATED MUTATION PRESENTING WITH IMMUNODEFICIENCY, MILD LYMPHOPENIA AND HEMI-CONVULSIVE STATUS EPILEPTICUS N. Radhakrishnan, S. Sawhney, P. Sharma, J. Madan, M. Madkaikar, J. Aluri (India)

294

THE HUMAN FETUS MOUNTS A CELLULAR IMMUNE RESPONSE TO INFECTION, MARKED BY CLONAL EXPANSION AND PRO-INFLAMMATORY CYOKINE SECRETION E. Rechavi, A. Lev, A. Simon, Y.N. Lee, B. Weisz, R. Somech (Israel)

295

GUT INFLAMMATION AND CUTANEOUS BARRIER LEAKAGE DRIVE SKIN AUTOIMMUNITY IN OMENN SYNDROME R. Rigoni, E. Fontana, V. Marrella, V. Maina, K. Dobbs, S. Guglielmetti, L.D. Notarangelo, A. Villa, B. Cassani (Italy)

296

CONGENITAL NEPHROTIC SYNDROME AS THE PRESENTING FEATURE OF T-BLOWNK- SCID F. Marujo, A.P. Rocha, A.I. Cordeiro, C. Neves, A.P. Serrão, G. Andrew, J. Farela Neves (Portugal)

297

EXOME SEQUENCING DIAGNOSES RAC2 MUTATION IN INFANTILE-ONSET HUMORAL IMMUNODEFICIENCY CASE WITH SUSCEPTIBILITY TO VIRAL INFECTIONS S. Sharapova, E. Haapaniemi, I. Sakovich, L. Kostyuchenko, O. Malko, A. Bondarenko, M. Stegantseva, O. Aleinikova (Belarus)

298

EARLY TOTAL THYMECTOMY ASSOCIATED WITH PREMATURE IMMUNOSENESCENCE AND SEROPOSITIVE POLYARTHRITIS IN A MALE ADOLESCENT U. Schulze-Sturm, C. Gehbauer, A. Fröhlich, E. Tolosa, R. Kobbe (Germany)

299

DECIPHERING THE INFLUENCE OF MICROBIAL COLONISATION ON T-CELL ONTOGENY OF EXTREME PREMATURE INFANTS F.D. Seki, K. Klebermaß-Schrehof, V. Giordano, K. Göral, A. Berger, D. Berry, L. Wisgrill (Austria)

300

T+ NK+ IL-2 RECEPTOR Γ CHAIN MUTATION: A CHALLENGING DIAGNOSIS OF ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY P. Stepensky, B. Keller, O. Shamriz, A. Nasereddin, C. Von Spee-Mayer, D. Friedmann, B. Shadur, S. Unger, S. Fuchs, N. Rumman, S. Amro, V. Molho, O. Abuzaitoun, R. Somech, O. Elpeleg, S. Ehl, K. Warnatz (Israel)

301

AUGMENTED APOPTOSIS RATE IN STAT1 GOF PATIENTS IS REDUCED BY JAK INHIBITOR RUXOLITINIB F. Todaro, L. Dotta, M. Pinelli, D. Vairo, D. Moratto, R. Badolato (Italy)

302

COMPARISON OF CT FINDINGS AND CLINICAL CHARACTERISTICS OF PNEUMOCYSTIS PNEUMONIA (PCP) PATIENTS IN ACQUIRED IMMUNE DEFICIENCY SYNDROME (AIDS) C. Yano, M. Tominaga, M. Nakamura, Z. Sasaki, Y. Sakazaki, Y. Naito, T. Kawayama, T. Hoshino (Japan)

303

IN ATAXIA-TELANGIECTASIA, ORAL BETAMETHASONE ADMINISTRATION INTERFERES ON IL-7/IL-7RΑ AXIS IN LYMPHOCYTES FUNCTIONALITY THROUGH MODULATION OF INTRACELLULAR TRAFFICKING M.R. Prencipe, E. Cirillo, V. Gallo, G. Giardino, L. Palamaro, G. Scalia, L. Del Vecchio, C. Pignata (Italy)

304

IDIOPATHIC CD4 LYMPHOCYTOPENIA COMPLICATED WITH LYMPHOCYTIC ALVEOLITIS : A CASE REPORT C. Tüzer, N. Paksoy, S. Beyaz, A. Gelincik, S. Buyukozturk, B. Çolakoğlu, Z. Bingöl (Turkey)

305

CHRONIC MUCOCUTANEOUS CANDIDIASIS IN A YOUNG CHILEAN INDIAN WOMAN; A CASE REPORT OF PREJUDICE, POVERTY AND GENES J. Inostroza, N. Conejan, A. Puel, K. Lagos, G. Tolosa, C. Vasquez, J.L. Casanova (Chile)

306