Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Immunodeficiency 38

Immunodeficiency 38 is an autosomal recessive disorder caused by mutations of the ISG15 gene which is predominantly characterized by a susceptibility to mycobacterial 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
Immunodeficiency 31C
Immunodeficiency 33
Immunodeficiency 38
ISG15
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.

Zhang X et al. (2015) Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

external link
2.

Bogunovic D et al. (2012) Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.

external link
Update: Aug. 14, 2020
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