T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy (TIDAND)

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OMIM 57 601705 Disease Ontology 12 DOID:0060769 ICD10 33 D82.8 Orphanet 59 ORPHA169095 ICD10 via Orphanet 34 D82.8

MedGen 42 C1866426 MeSH 44 D000505 D007153 D009260 KEGG 37 H01181 SNOMED-CT via HPO 69 258211005 278040002 56317004 89704006 271768001 234532001 87065009 more UMLS 73 C1866426

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 169095Disease definitionAlymphoid cystic thymic dysgenesis is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.Visit the Orphanet disease page for more resources.

MalaCards based summary : T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy, also known as t-cell immunodeficiency, congenital alopecia and nail dystrophy, is related to alopecia, congenital and alopecia. An important gene associated with T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy is FOXN1 (Forkhead Box N1). Affiliated tissues include t cells and b cells, and related phenotypes are immunodeficiency and decrease in t cell count

Disease Ontology : ¹² A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.

Genetics Home Reference : ²⁵ T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood.

UniProtKB/Swiss-Prot : ⁷⁵ T-cell immunodeficiency, congenital alopecia, and nail dystrophy: A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails.

Description from OMIM: 601705

Clinical features from OMIM:

601705

Search Clinical Trials , NIH Clinical Center for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Search GEO for disease gene expression data for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy.