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
	Disposition to infections
	IRAK4 deficiency
	Immunodeficiency 20
	Immunodeficiency 21
	Immunodeficiency 31A
		STAT1
	Immunodeficiency 31B
	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.	Dupuis S et al. (2001) Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

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

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

4.	OMIM.ORG article Omim 614892

Update: June 23, 2025

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