Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Immunodeficiency 31A

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

Systematic

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

References:

1.

Dupuis S et. al. (2001) Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

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2.

Tsumura M et. al. (2012) Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

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3.

Al-Muhsen S et. al. (2008) The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.

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Update: Sept. 26, 2018