Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency |
Anhidrosis; hypohidrosis; dry skin; sparse scalp hair; conical teeth; frontal bossing; saddle nose; hypodontia; recurrent respiratory infections; gastrointestinal infections; lack of sweat glands; heat intolerance; chronic mucocutaneous candidiasis; light colored hair; sparse hair; recurrent infections; reduced immunoglobulin levels; defective production of NFKB1-dependent cytokines; immunodeficiency |
Defects in Innate Immunity |
Autosomal dominant |