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Article

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.

Journal of clinical immunology - 16 Feb 2024

Della Mina Erika, Jackson Katherine J L, Crawford Alexander J I, Faulks Megan L, Pathmanandavel Karrnan, Acquarola Nicolino, O'Sullivan Michael, Kerre Tessa, Naesens Leslie, Claes Karlien, Goodnow Christopher C, Haerynck Filomeen, Kracker Sven, Meyts Isabelle, D'Orsogna Lloyd J, Ma Cindy S, Tangye Stuart G

Abstract excerpt

B cells and their secreted antibodies are fundamental for host-defense against pathogens. The generation of high-affinity class switched antibodies results from both somatic hypermutation (SHM) of the immunoglobulin (Ig) variable region genes of the B-cell receptor and class switch recombination (CSR) which alters the Ig heavy chain constant region. Both of these processes are initiated by the enzyme...

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Identifiers

PMID: 38363477
DOI: 10.1007/s10875-024-01665-1
PMCID: PMC10873450

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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