Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Immunodeficiency 31B

Immunodeficiency 31B is an autosomal dominant disorder caused by mutations of the STAT1 gene and is characterized by prolonged mycobacterial and viral infections.

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
Immunodeficiency 31B
STAT1
Immunodeficiency 31C
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
Vasculitis due to ADA2 deficiency
Wiskott–Aldrich syndrome

References:

1.

Yamamoto K et al. (1997) cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-->q32.3.

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2.

Dupuis S et al. (2003) Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.

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3.

Chapgier A et al. (2006) Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo.

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4.

Kong XF et al. (2010) A novel form of human STAT1 deficiency impairing early but not late responses to interferons.

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5.

OMIM.ORG article

Omim 613796 [^]
Update: April 29, 2019