title: Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
abstract: The 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.
authors.affiliation: Inserm U429, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Revy
authors.forename: T
authors.initials: T
authors.lastname: Muto
authors.forename: Y
authors.initials: Y
authors.lastname: Levy
authors.forename: F
authors.initials: F
authors.lastname: Geissmann
authors.forename: A
authors.initials: A
authors.lastname: Plebani
authors.forename: O
authors.initials: O
authors.lastname: Sanal
authors.forename: N
authors.initials: N
authors.lastname: Catalan
authors.forename: M
authors.initials: M
authors.lastname: Forveille
authors.forename: R
authors.initials: R
authors.lastname: Dufourcq-Labelouse
authors.forename: A
authors.initials: A
authors.lastname: Gennery
authors.forename: I
authors.initials: I
authors.lastname: Tezcan
authors.forename: F
authors.initials: F
authors.lastname: Ersoy
authors.forename: H
authors.initials: H
authors.lastname: Kayserili
authors.forename: A G
authors.initials: AG
authors.lastname: Ugazio
authors.forename: N
authors.initials: N
authors.lastname: Brousse
authors.forename: M
authors.initials: M
authors.lastname: Muramatsu
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: K
authors.initials: K
authors.lastname: Kinoshita
authors.forename: T
authors.initials: T
authors.lastname: Honjo
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: A
authors.initials: A
authors.lastname: Durandy
mesh_terms: D000071479:APOBEC-1 Deaminase; D000293:Adolescent; D000595:Amino Acid Sequence; D001402:B-Lymphocytes / Q000201:enzymology / Q000276:immunology / Q000473:pathology; D002455:Cell Division; D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D003001:Cloning, Molecular; D003564:Cytidine Deaminase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism*; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive / Q000235:genetics*; D018858:Germinal Center / Q000276:immunology / Q000473:pathology; D006801:Humans; D006965:Hyperplasia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D007075:Immunoglobulin M / Q000235:genetics* / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology* / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D007223:Infant; D008126:Lod Score; D008198:Lymph Nodes / Q000276:immunology / Q000473:pathology; D008213:Lymphocyte Activation; D008297:Male; D008969:Molecular Sequence Data; D014066:Palatine Tonsil / Q000276:immunology / Q000473:pathology; D010375:Pedigree; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
chemical_list: D007075:Immunoglobulin M; D012333:RNA, Messenger; D000098830:AICDA (Activation-Induced Cytidine Deaminase); D000071479:APOBEC-1 Deaminase; C000605089:APOBEC1 protein, human; C000605090:Apobec1 protein, mouse; D003564:Cytidine Deaminase