Mutations in NFKBIA may be associated with ectodermal dysplasia, anhidrosis, and T-cell deficiency.
Chromosome: 14q13.2
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
Clinical features:
(1) anhidrosis with heat intolerance
(2) rough, dry skin
(3) sparse scalp hair
(4) malformed teeth
(5) recurrent infections
(6) failure to thrive
Laboratory findings:
(1) decreased levels of cytokines and interferons following stimulation
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