CONGENITAL ALOPECIA AND NAIL DYSTROPHY ASSOCIATED WITH SEVERE FUNCTIONAL T-CELL IMMUNODEFICIENCY IN 2 SIBS

We report on two sisters affected by congenital alopecia, nail dystrop hy, and a severe T-cell immunodeficiency, presumably inherited as an a utosomal-recessive disorder. The T-cell defect was characterized by se vere functional impairment, as shown by the lack of proliferative resp onse and upregulation of activation markers following mitogen stimulat ion. The functional abnormality occurred in spite of the presence of p henotypically mature T cells, thus suggesting the qualitative nature o f the defect. This is the first observation reported on an ectodermal disorder, characterized by alopecia and nail dystrophy, observed at bi rth, in association with a primary immunodeficiency. The hypothesis th at these two events may be causally related is discussed. (C) 1996 Wil ey-Liss, Inc.