| H01181 | |
| H number | H01181 |
| Name | T-cell immunodeficiency congenital alopecia and nail dystrophy |
| Description | T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (SCID) syndrome caused by a mutation in FOXN1 gene encoding a transcription factor selectively expressed in thymic epithelia and skin. SCIDs are disorders of both cell-mediated and humoral immunity, characterized by high susceptibility to develop severe and sometimes fatal infections. TIDAND is the only human SCID caused by an intrinsic abnormality of the epithelial component of the thymus. The disease is always associated with a profound T-cell defect. |
| Category | Immune system disease |
| Network | - |
| Gene | FOXN1 [HSA:8456] [KO:K09407] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A01.1Y MeSH: C536781 OMIM: 601705 |
| Reference | PMID:18339010 AUTHORS Amorosi S, D'Armiento M, Calcagno G, Russo I, Adriani M, Christiano AM, Weiner L, Brissette JL, Pignata C TITLE FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. JOURNAL Clin Genet 73:380-4 (2008) DOI:10.1111/j.1399-0004.2008.00977.x PMID:15180707 AUTHORS Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C TITLE Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. JOURNAL Ann Hum Genet 68:265-8 (2004) DOI:10.1046/j.1529-8817.2004.00091.x |