DISEASE: T-cell immunodeficiency with thymic aplasia
Entry
H03067 Disease
Name
T-cell immunodeficiency with thymic aplasia
Description
T-cell immunodeficiency with thymic aplasia (TIDTA) is a combined immunodeficiency caused by mutations in FOXN1, a transcription factor essential for thymic epithelial cell differentiation. Patients have a presentation consistent with T-/loB+NK+ SCID, with normal hair and nails, distinct from the classic nude/SCID phenotype in individuals with autosomal recessive FOXN1 mutations [DS:H01181].
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
H03067 T-cell immunodeficiency with thymic aplasia
Du Q, Huynh LK, Coskun F, Molina E, King MA, Raj P, Khan S, Dozmorov I, Seroogy CM, Wysocki CA, Padron GT, Yates TR, Markert ML, de la Morena MT, van Oers NS
Title
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.
