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Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

Authors :
Ilhan Tezcan
Alain Fischer
Jiri Litzman
Gerd Horneff
Alessandro Plebani
Guzide Aksu
Anne Durandy
Ozden Sanal
Jacov Levy
Graham Davies
Nadia Catalan
Jean-Paul Fermand
Peter J. L. Lane
Kohsuhe Imai
Jacinta Bustamante
Anne Deville
Işık Yalçın
Ersoy F
Pierre Quartier
Marianne Debré
Source :
Clinical Immunology. 110:22-29
Publication Year :
2004
Publisher :
Elsevier BV, 2004.

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.

Details

ISSN :
15216616
Volume :
110
Database :
OpenAIRE
Journal :
Clinical Immunology
Accession number :
edsair.doi.dedup.....9c5f7d621103ea7d9c0f236df4dcff9e
Full Text :
https://doi.org/10.1016/j.clim.2003.10.007