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Article

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome.

European journal of pediatrics - 1 Dec 2004

Fiorini Claudia, Jilani Sawssen, Losi Claretta Gioia, Silini Antonietta, Giliani Silvia, Ferrari Simona, Notarangelo Luigi D, Plebani Alessandro, Sfar Taher, Helal Ahmed

Abstract excerpt

UNLABELLED: Mutations in activation-induced cytidine deaminase can cause an autosomal recessive form of hyper-IgM syndrome. We have examined a Tunisian family composed of six members: two healthy parents, their two healthy daughters and two affected sons. We found a homozygous transversion G to T in the two sons while heterozygosity for the mutation was found in all other family members. This alteration is...

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Identifiers

PMID: 15372234
DOI: 10.1007/s00431-004-1540-8

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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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