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Article

A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting.

Journal of clinical immunology - 1 May 2022

Dirks Johannes, Haase Gabriele, Cantaert Tineke, Frey Lea, Klaas Moritz, Rickert Christian H, Girschick Hermann, Meffre Eric, Morbach Henner

Abstract excerpt

Hyper-IgM syndrome type 2 (HIGM2) is a B cell intrinsic primary immunodeficiency caused by mutations in AICDA encoding activation-induced cytidine deaminase (AID) which impair immunoglobulin class switch recombination (CSR) and somatic hypermutation (SHM). Whereas autosomal-recessive AID-deficiency (AR-AID) affects both CSR and SHM, the autosomal-dominant form (AD-AID) due to C-terminal heterozygous variants...

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Share to AICDA (Activation-Induced Cytidine Deaminase)
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35246784
DOI: 10.1007/s10875-022-01233-5
PMCID: PMC9166864

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