T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Mutation in the FOXN1(WHN) gene cause an autosomal recessive syndrome characterised by decrease of mature T and a low number of helper T cells, whereas the number of suppressor/cytotoxic T cells was relatively normal. Two patients have been described until now.

Alternative names

Human Nude/SCID

Classification

  • Combined B and T cell immunodeficiencies
    • T-B+ SCID

Inheritance

Autosomal recessive

OMIM

#601705 T-cell immunodeficiency, congenital alopecia, and nail dystrophy

*600838 Winged helix nude; WHN

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Omenn syndrome

Incidence

Incidence is not known yet.