Show simple item record

dc.contributor.authorRevy, P
dc.contributor.authorMuto, T
dc.contributor.authorLevy, Y
dc.contributor.authorGeissmann, F
dc.contributor.authorPlebani, A
dc.contributor.authorSanal, O
dc.contributor.authorCatalan, N
dc.contributor.authorForveille, M
dc.contributor.authorDufourcq-Lagelouse, R
dc.contributor.authorGennery, A
dc.contributor.authorTezcan, I
dc.contributor.authorErsoy, F
dc.contributor.authorKayserili, H
dc.contributor.authorUgazio, AG
dc.contributor.authorBrousse, N
dc.contributor.authorMuramatsu, M
dc.contributor.authorNotarangelo, LD
dc.contributor.authorKinoshita, K
dc.contributor.authorHonjo, T
dc.contributor.authorFischer, A
dc.contributor.authorDurandy, A
dc.date.accessioned2019-12-10T10:42:53Z
dc.date.available2019-12-10T10:42:53Z
dc.date.issued2000
dc.identifier.issn0092-8674
dc.identifier.urihttps://doi.org/10.1016/S0092-8674(00)00079-9
dc.identifier.urihttp://hdl.handle.net/11655/14257
dc.description.abstractThe activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in patients with the autosomal recessive form of hyper-IgM syndrome (HIGM2). Three major abnormalities characterize AID deficiency: (1) the absence of immunoglobulin class switch recombination, (2) the lack of immunoglobulin somatic hypermutations, and (3) lymph node hyperplasia caused by the presence of giant germinal centers. The phenotype observed in HIGM2 patients (and in AID(-/-) mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses.
dc.language.isoen
dc.publisherCell Press
dc.relation.isversionof10.1016/S0092-8674(00)00079-9
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBiochemistry & Molecular Biology
dc.subjectCell Biology
dc.titleActivation-Induced Cytidine Deaminase (AID) Deficiency Causes The Autosomal Recessive Form Of The Hyper-Igm Syndrome (HIGM2)
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalCell
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume102
dc.identifier.issue5
dc.identifier.startpage565
dc.identifier.endpage575
dc.description.indexWoS
dc.description.indexScopus


Files in this item

This item appears in the following Collection(s)

Show simple item record