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Article

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.

European journal of human genetics : EJHG - 1 Oct 2016

Trotta Luca, Hautala Timo, Hämäläinen Sari, Syrjänen Jaana, Viskari Hanna, Almusa Henrikki, Lepisto Maija, Kaustio Meri, Porkka Kimmo, Palotie Aarno, Seppänen Mikko, Saarela Janna

Abstract excerpt

Antibody class-switch recombination and somatic hypermutation critically depend on the function of activation-induced cytidine deaminase (AID). Rare variants in its gene AICDA have been reported to cause autosomal recessive AID deficiency (autosomal recessive hyper-IgM syndrome type 2 (HIGM2)). Exome sequencing of a multicase Finnish family with an HIGM2 phenotype identified a rare, homozygous, variant (c.416T>C,...

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Identifiers

PMID: 27142677
DOI: 10.1038/ejhg.2016.37
PMCID: PMC5027683

Genes

AICDA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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