Combined B and T-cell immunodeficiency

A new disease profile is added to our database – T cell immunodeficiency, congenital alopecia and nail dystrophy. It is combined B and T-cell immunodeficiency characterized by decrease of mature T and a low number of helper T cells, whereas the number of supressor/cytotoxic T cells is relatively normal. Mutations in the FOXN1 (WHN) gene, located in 17q11-q12 chromosome, cause an autosomal recessive syndrome. Mutation analyses revealed a homozygous nonsense mutation in affected individuals that was present in the heterozygous state in obligate carriers, and in many members of the extended family, originating from the same village. Incidence is not known yet. Two patients (female siblings of Italian ancestry) have been described until now, in 1996. Surprisingly, no other case of this fascinating disorder has been reported to date. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request.The profile was written by our consultant in immunology – Prof. Dr. Mariana Murdjeva, MD, PhD.