Disease ID | Source | Name | Description |
618806 | OMIM | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND) | An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, and increased susceptibility to recurrent infections, mainly respiratory viral infections. Additional features may include impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy. The disease is caused by variants affecting the gene represented in this entry. |
601705 | OMIM | T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) | A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. The disease is caused by variants affecting the gene represented in this entry. |
242700 | OMIM | T-cell immunodeficiency with thymic aplasia (TIDTA) | An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections. The disease is caused by variants affecting the gene represented in this entry. |