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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