A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

ABSTRACT:

Background

Chronic mucocutaneous candidiasis may be manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic, but both autosomal dominant inheritance and autosomal recessive inheritance have been described.

Methods

We performed genetic studies in 36 members of a large, consanguineous five-generation family, in which 4 members had recurrent fungal infections and an additional 3 members died during adolescence, 2 after invasive infection of the brain with candida species. All 36 family members were enrolled in the study, and 22 had blood samples taken for DNA analysis. Homozygosity mapping was used to locate the mutated gene. In the 4 affected family members (patients) a

SUBMITTER: Glocker EO 

PROVIDER: S-EPMC2793117 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature