Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs
✍ Scribed by Pignata, Claudio; Fiore, Michele; Guzzetta, Vito; Castaldo, Annunziata; Sebastio, Gianfranco; Porta, Fulvio; Guarino, Alfredo
- Book ID
- 101214716
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 412 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
W e report on two sisters affected by congenital alopecia, nail dystrophy, and a severe Tcell immunodeficiency, presumably inherited as an autosomal-recessive disorder. The T-cell defect was characterized by severe functional impairment, as shown by the lack of proliferative response and upregulation of activation markers following mitogen stimulation. The functional abnormality oc- curred in spite of the presence of phenotypically mature T cells, thus suggesting the qualitative nature of the defect. This is the first observation reported on an ectodermal disorder, characterized by alopecia and nail dystrophy, observed at birth, in association with a primary immunodeficiency. The hypothesis that these two events may be causally related is discussed.