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
Achondroplasia-SCID syndrome
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Hereditary susceptibility to infections
Immunodeficiency 20
Immunodeficiency 21
Immunodeficiency 31A
STAT1
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
Vasculitis due to ADA2 deficiency
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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4.

OMIM.ORG article

Omim 614892 [^]
Update: April 29, 2019