KEGG DISEASE: T-cell immunodeficiency congenital alopecia and nail dystrophy

KEGG

DISEASE: T-cell immunodeficiency congenital alopecia and nail dystrophy

Entry

H01181                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01181  T-cell immunodeficiency congenital alopecia and nail dystrophy

Gene

FOXN1 [HSA:8456] [KO:K09407]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

Reference

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

LinkDB

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