Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Immunodeficiency 33

Immunodeficiency 33 is an X-linked recessive disorder caused by mutations of the IKBKG 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
IKBKG
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.

Filipe-Santos O et al. (2006) X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

external link
2.

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

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Update: Aug. 14, 2020
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