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

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dc.contributor.authorQuartier, P
dc.contributor.authorBustamante, J
dc.contributor.authorSanal, O
dc.contributor.authorPlebani, A
dc.contributor.authorDebre, M
dc.contributor.authorDeville, A
dc.contributor.authorLitzman, J
dc.contributor.authorLevy, J
dc.contributor.authorFermand, JP
dc.contributor.authorLane, P
dc.contributor.authorHorneff, G
dc.contributor.authorAksu, G
dc.contributor.authorYalcin, I
dc.contributor.authorDavies, G
dc.contributor.authorTezcan, I
dc.contributor.authorErsoy, F
dc.contributor.authorCatalan, N
dc.contributor.authorImai, K
dc.contributor.authorFischer, A
dc.contributor.authorDurandy, A
dc.date.accessioned2019-10-27T18:37:17Z
dc.date.available2019-10-27T18:37:17Z
dc.date.issued2004
dc.departmentEge Üniversitesien_US
dc.description.abstractMutations 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.en_US
dc.identifier.doi10.1016/j.clim.2003.10.007en_US
dc.identifier.endpage29en_US
dc.identifier.issn1521-6616
dc.identifier.issn1521-7035
dc.identifier.issue1en_US
dc.identifier.pmid14962793en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage22en_US
dc.identifier.urihttps://doi.org/10.1016/j.clim.2003.10.007
dc.identifier.urihttps://hdl.handle.net/11454/36363
dc.identifier.volume110en_US
dc.identifier.wosWOS:000189085400004en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAcademic Press Inc Elsevier Scienceen_US
dc.relation.ispartofClinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAIDen_US
dc.subjectimmune deficiencyen_US
dc.subjectchilden_US
dc.subjectautoimmunityen_US
dc.subjectintravenous immunoglobulinen_US
dc.titleClinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiencyen_US
dc.typeArticleen_US

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