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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.

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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.

external link
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 external link
Update: Aug. 14, 2020
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