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 and Jakov LEVY. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol. 2004, vol. 110, No 3, p. 22-29. ISSN 1521-6616.
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Basic information
Original name Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
Name in Czech Klinická, imunologická a genetická analýza 29 pacientů s autosomálně recesivním hyper IgM syndromem a deficitem AID
Authors QUARTIER, Pierre (250 France), Jacinta BUSTAMANTE (250 France), Ozden SANAL (792 Turkey), Alessandro PLEBANI (380 Italy), Marianne DEBRE (250 France), Anne DEVILLE (250 France), Jiří LITZMAN (203 Czech Republic, guarantor), Jean-Paul FERMAND (250 France), Peter LANE (826 United Kingdom of Great Britain and Northern Ireland), Gerd HORNEFF (276 Germany), Guzide AKSU (276 Germany), Isik YALCIN (792 Turkey), Graham DAVIES (826 United Kingdom of Great Britain and Northern Ireland), Ilhan TEZCAN (792 Turkey), Furgen ERSOY (792 Turkey), Nadia CATALAN (250 France), Kohsuhe IMAI (250 France), Alain FISCHER (250 France), Anne DURANDY (250 France) and Jakov LEVY (376 Israel).
Edition Clin Immunol, 2004, 1521-6616.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30102 Immunology
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 3.034
RIV identification code RIV/00216224:14110/04:00030934
Organization unit Faculty of Medicine
UT WoS 000189085400004
Keywords in English AID; immune deficiency; child; autoimmunity; intravenous immunoglobulin
Tags aid, autoimmunity, child, immune deficiency, intravenous immunoglobulin
Tags International impact, Reviewed
Changed by Changed by: prof. MUDr. Jiří Litzman, CSc., učo 403. Changed: 2/4/2010 08:12.
Abstract
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.
Abstract (in Czech)
Klinická, imunologická a genetická analýza 29 pacientů s autosomálně recesivním hyper IgM syndromem a deficitem AID.
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