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@article{569208,
author = {Quartier, Pierre and Bustamante, Jacinta and Sanal, Ozden and Plebani, Alessandro and Debre, Marianne and Deville, Anne and Litzman, Jiří and Fermand, JeanandPaul and Lane, Peter and Horneff, Gerd and Aksu, Guzide and Yalcin, Isik and Davies, Graham and Tezcan, Ilhan and Ersoy, Furgen and Catalan, Nadia and Imai, Kohsuhe and Fischer, Alain and Durandy, Anne and Levy, Jakov},
article_number = {3},
keywords = {AID; immune deficiency; child; autoimmunity; intravenous immunoglobulin},
language = {eng},
issn = {1521-6616},
journal = {Clin Immunol},
title = {Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.},
volume = {110},
year = {2004}
}
TY - JOUR
ID - 569208
AU - Quartier, Pierre - Bustamante, Jacinta - Sanal, Ozden - Plebani, Alessandro - Debre, Marianne - Deville, Anne - Litzman, Jiří - Fermand, Jean-Paul - Lane, Peter - Horneff, Gerd - Aksu, Guzide - Yalcin, Isik - Davies, Graham - Tezcan, Ilhan - Ersoy, Furgen - Catalan, Nadia - Imai, Kohsuhe - Fischer, Alain - Durandy, Anne - Levy, Jakov
PY - 2004
TI - Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
JF - Clin Immunol
VL - 110
IS - 3
SP - 22-29
EP - 22-29
SN - 15216616
KW - AID
KW - immune deficiency
KW - child
KW - autoimmunity
KW - intravenous immunoglobulin
N2 - Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. We retrospectively analyzed clinical, immunologic and genetic characteristics of 29 patients from 22 families with AID deficiency. Patients' median age at diagnosis and at last evaluation was 4.9 years (range: 0 to 53) and 14.2 years (range: 2.7 to 63), respectively. Most patients had suffered from recurrent and severe infections, however, intravenous immunoglobulin (IVIG) replacement therapy resulted in a dramatic decrease in the number of infections. Lymphoid hyperplasia developed in 22 patients and persisted in 7 at last follow-up. It is striking to note that six patients developed autoimmune or inflammatory disorders including diabetes mellitus, polyarthritis, autoimmune hepatitis, hemolytic anemia, immune thrombocytopenia, Crohn's disease and chronic uveitis. Fifteen distinct AID mutations were found but there was no significant genotype-phenotype correlation. In conclusion, AID-deficient patients are prone to infections and lymphoid hyperplasia, which may be prevented by early-onset IVIG replacement, but also to autoimmune and inflammatory disorders.
ER -
QUARTIER, Pierre, Jacinta BUSTAMANTE, Ozden SANAL, Alessandro PLEBANI, Marianne DEBRE, Anne DEVILLE, Jiří LITZMAN, Jean-Paul FERMAND, Peter LANE, Gerd HORNEFF, Guzide AKSU, Isik YALCIN, Graham DAVIES, Ilhan TEZCAN, Furgen ERSOY, Nadia CATALAN, Kohsuhe IMAI, Alain FISCHER, Anne DURANDY a Jakov LEVY. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. \textit{Clin Immunol}. 2004, roč.~110, č.~3, s.~22-29. ISSN~1521-6616.
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