severe combined immunodeficiency, autosomal recessive, due to FOXN1 deficiency.

Disease ID:1244
Name:severe combined immunodeficiency, autosomal recessive, due to FOXN1 deficiency.
Associated with:1 target
Synonyms
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Description
In FOXN1 deficiency in humans is the counterpart of the nude SCID mouse phenotype. The clinical hallmarks are athymia with severe T cell immunodeficiency, congenital alopecia, and nail dystrophy.
Database Links
OMIM: 601705

Targets

forkhead box N1
Comments:  A very rare condition. Hematopoietic stem cell transplantation (HSCT) is the appropriate treatment, aiming to reconstitute the immune system. HSCT must begin before the onset of life-threatening infections and other complications.
References:  1

Ligands

No ligand related data available for severe combined immunodeficiency, autosomal recessive, due to FOXN1 deficiency.

References

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1. Frank J, Pignata C, Panteleyev AA, Prowse DM, Baden H, Weiner L, Gaetaniello L, Ahmad W, Pozzi N, Cserhalmi-Friedman PB et al.. (1999) Exposing the human nude phenotype. Nature, 398 (6727): 473-4. [PMID:10206641]