Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Genetic susceptibility to mycobacterial infections is an X-linked recessive disorder caused by mutations of the IKBKG.

Systematic

Susceptibility to mycobacterial diseases
TIRAP
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG

References:

1.

Orange JS et al. (2004) Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.

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2.

Niehues T et al. (2004) Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.

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3.

Puel A et al. (2006) The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

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Update: Aug. 14, 2020
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