Genetic susceptibility to mycobacterial infections is an X-linked recessive disorder caused by mutations of the IKBKG.
Susceptibility to mycobacterial diseases | ||||
TIRAP | ||||
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency | ||||
IKBKG | ||||
1. |
Orange JS et al. (2004) Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. |
2. |
Niehues T et al. (2004) Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. |
3. |
Puel A et al. (2006) The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. |