Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Immunodeficiency 69

Immunodeficiency 69 is caused by mutations of the INFG gene which encodes interferon gamma a stimulator of macrophages intracellular microbicidal function. If not present macrophages are incapable to kill intracellular mycobacteria.

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
Immunodeficiency 31C
Immunodeficiency 33
Immunodeficiency 38
Immunodeficiency 41
Immunodeficiency 51
Immunodeficiency 68
Immunodeficiency 69
IFNG
Immunodeficiency 74, COVID19-related
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
Vasculitis due to ADA2 deficiency
Wiskott–Aldrich syndrome

References:

1.

Kerner G et al. (2020) Inherited human IFN-γ deficiency underlies mycobacterial disease.

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Update: Aug. 14, 2020
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