[MIM 242 700] 

Extremely rare: a few reported cases. Mutation of the FOXN1 gene (17q11)causing immunodeficiency related to T lymphocyte cells. Other mutations of this gene can produce TIDAND syndrome [MIM 601 705] (acronym for T-cell ImmunoDeficiency, congenital Alopecia, and Nail Dystrophy) combining T-cell immunodeficiency, congenital alopecia and nail dysplasia.

Clinical presentation:

isolated thymus atrophy with normal or elevated plasma immunoglobulin levels, frequent infections (skin, lungs, urinary tract), candidiasis, chronic diarrhea and growth retardation.

Anesthetic implications: 

strict asepsis, antibioprophylaxis

References:

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Updated: December 2021