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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

Date
2004
Author
Deville, A
Quartier, P
Bustamante, J
Sanal, O
Plebani, A
Debre, M
Litzman, J
Levy, J
Fermand, JP
Lane, P
Horneff, G
Aksu, G
Yalcin, I
Davies, G
Tezcan, I
Ersoy, F
Catalan, N
Imai, K
Fischer, A
Durandy, A
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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. (C) 2003 Elsevier Inc. All rights reserved.
URI
http://hdl.handle.net/20.500.12627/54265
https://doi.org/10.1016/j.clim.2003.10.007
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Creative Commons Lisansı

İstanbul Üniversitesi Akademik Arşiv Sistemi (ilgili içerikte aksi belirtilmediği sürece) Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

DSpace software copyright © 2002-2016  DuraSpace
Contact Us | Send Feedback
Theme by 
Atmire NV