| H01181 | |
| H番号 | H01181 |
| 名称 | T-細胞免疫不全症先天性脱毛および爪ジストロフィー |
| 概要 | 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. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | FOXN1 [HSA:8456] [KO:K09407] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A01.1Y MeSH: C536781 OMIM: 601705 |
| 文献 | PMID:18339010 著者 Amorosi S, D'Armiento M, Calcagno G, Russo I, Adriani M, Christiano AM, Weiner L, Brissette JL, Pignata C タイトル FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 雑誌 Clin Genet 73:380-4 (2008) DOI:10.1111/j.1399-0004.2008.00977.x PMID:15180707 著者 Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C タイトル Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 雑誌 Ann Hum Genet 68:265-8 (2004) DOI:10.1046/j.1529-8817.2004.00091.x |