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Immunodeficiency 31A

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


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
IRAK4 deficiency
Immunodeficiency 20
Immunodeficiency 21
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency 33
Immunodeficiency 38
Immunodeficiency 41
Immunodeficiency 69
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
Vasculitis due to ADA2 deficiency
Wiskott–Aldrich syndrome



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

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

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

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OMIM.ORG article

Omim 614892 external link
Update: Aug. 14, 2020
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