Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Immunodeficiency 31C

Immunodeficiency 31C is an autosomal dominant disorder caused by mutations of the STAT1 gene.

Systematic

Primary immunodeficiency
Hereditary susceptibility to infections
Immunodeficiency 21
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
STAT1
Immunodeficiency-centromeric instability-facial anomalies syndrome
Wiskott–Aldrich syndrome

References:

1.

van de Veerdonk FL et. al. (2011) STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

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2.

Liu L et. al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

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3.

Smeekens SP et. al. (2011) STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

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4.

Uzel G et. al. (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

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5.

Sampaio EP et. al. (2013) Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

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6.

Soltész B et. al. (2013) New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

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7.

Yamazaki Y et. al. (2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

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Update: Sept. 26, 2018