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Article

Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema.

Allergy - 1 Jan 2016

Grumach A S, Stieber C, Veronez C L, Cagini N, Constantino-Silva R N, Cordeiro E, Nöthen M M, Pesquero J B, Cichon S

Abstract excerpt

Hereditary angio-oedema (HAE) with normal C1 inhibitor is associated with heterozygous mutations in the factor XII gene (FXII-HAE). We report two Brazilian FXII-HAE families segregating the mutation c.983 C>A (p.Thr328Lys). In each family, one patient with a homozygous mutation was found. The homozygous female patient in family 1 displayed a severe phenotype. However, this falls within the clinical phenotype...

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PMID: 26392288
DOI: 10.1111/all.12769

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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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