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
	Disposition to infections
	IRAK4 deficiency
	Immunodeficiency 20
	Immunodeficiency 21
	Immunodeficiency 31A
	Immunodeficiency 31B
		STAT1
	Immunodeficiency 31C
	Immunodeficiency 33
	Immunodeficiency 38
	Immunodeficiency 41
	Immunodeficiency 51
	Immunodeficiency 68
	Immunodeficiency 69
	Immunodeficiency 74, COVID19-related
	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.

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

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.

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

5.	OMIM.ORG article Omim 613796

Update: June 23, 2025

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