Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy D81.4

T-cell immunodeficiency, congenital alopecia and nail dystrophy , or TIDAND, is an autosomal recessive primary immunodeficiency associated with mutations in the FOXN1 gene and characterized by congenital thymic aplasia and severe T-cell immunodeficiency.

Already at birth or shortly thereafter.

Affected individuals are prone to recurrent infections, oral candidiasis, and failure to thrive.

Immunological studies show a decreased number of T cells with a poor proliferative response to phytohaemagglutinin (PHA) and variable hypogammaglobulinemia. The phenotype is consistent with a T-/B+/NK+ form of severe combined immunodeficiency .

Patients with FOXN1 mutations do not respond well to hematopoietic stem cell transplantation because it is not curative. Thymus transplantation offers a potential cure (Chou et al. 2014).

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