Journal Article

STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

Joosten, Leo A.B, Netea, Mihai G, Hoischen, Alexander, Smeekens, Sanne P, Plantinga, Theo S, Kullberg, Bart Jan, Carmichael, Andrew J, Lilic, Desa, Smits-van der Graaf, Chantal A.A, van der Meer, Jos W.M, Veltman, Joris A, Arts, Peer, van de Veerdonk, Frank L, Gilissen, Christian, Rosentul, Diana C

2011

Overview

Autosomal dominant chronic mucocutaneous candidiasis (CMC) is a severe immunodeficiency characterized by mucosal infections with fungi. Mutations affecting a particular region of the STAT1 signaling protein cause autosomal dominant CMC, probably through denting of the responses of type 1 and type 17 helper T cells. Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency disorder that is characterized by susceptibility to infection of the skin, nails, and mucous membranes by candida species and dermatophytes. 1 There are several CMC subtypes: autosomal recessive autoimmune polyendocrinopathy candidiasis with ectodermal dystrophy (APECED), autosomal dominant CMC with or without thyroid disease, and autosomal recessive, isolated CMC. The defect in APECED resides in the autoimmune regulator AIRE, which has a key role in immunotolerance. 2 The susceptibility to candida in patients with APECED is attributed to autoantibodies to interleukin-17 and interleukin-22, 3 since type 17 helper T cells (Th17) are crucial for mucosal antifungal . . .

• Publisher: Massachusetts Medical Society
• Subject: AIRE protein / Autoimmunity / Biological and medical sciences / Candidiasis / Candidiasis, Chronic Mucocutaneous - genetics / Candidiasis, Chronic Mucocutaneous - immunology / Chronic infection / Chronic mucocutaneous candidiasis / Cytokines / Cytomegalovirus / Deoxyribonucleic acid / DNA / Esophageal cancer / Families & family life / General aspects / Haplotypes / Helper cells / Humans / Hypothyroidism / Infections / Interferon / Interferon-gamma - biosynthesis / Interleukin 12 / Interleukin 17 / Interleukin 22 / Interleukin 23 / Interleukin-17 - biosynthesis / Interleukins - biosynthesis / Leukocytes (mononuclear) / Lymphocytes T / Medical sciences / Microorganisms / Missense mutation / Mutation / Mutation, Missense / Nails (Anatomy) / Nucleotide sequence / Peripheral blood / Protein Structure, Tertiary / R&D / Research & development / Sequence Analysis, DNA / Signal Transduction / Skin / Stat1 protein / STAT1 Transcription Factor - genetics / Th1 Cells - immunology / Th17 Cells - immunology / Thyroid gland / Transcription / Tumor necrosis factor-TNF