Mutations in NFKBIA may be associated with ectodermal dysplasia, anhidrosis, and T-cell deficiency.
Gene: NFKBIA (nuclear factor of kappa light chain gene enhancer in B cells inhibitor, alpha), which is a transcription factor required for normal activation of the immune response
Inheritiance: autosomal dominant and X-linked
(1) anhidrosis with heat intolerance
(2) rough, dry skin
(3) sparse scalp hair
(4) malformed teeth
(5) recurrent infections
(6) failure to thrive
(1) decreased levels of cytokines and interferons following stimulation
To read more or access our algorithms and calculators, please log in or register.