Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Genetic susceptibility to mycobacterial infections is an X-linked recessive disorder caused by mutations of the IKBKG.
Susceptibility to mycobacterial diseases
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TIRAP
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X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
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IKBKG
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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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