T-Cell Immunodeficiency with Thymic Aplasia (TIDTA)

Alias:

Nezelof Syndrome

T-Lymphocyte Deficiency

Tidta

Thymic Dysplasia with Normal Immunoglobulins

Immune Defect Due to Absence of Thymus

Nezelof's Syndrome

Thymic Aplasia

T-Lymphocyte Immunodeficiency

Thymic Aplasia Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

T-Cell Immunodeficiency with Thymic Aplasia, also known as nezelof syndrome, is related to t-cell immunodeficiency, congenital alopecia, and nail dystrophy and t cell deficiency. An important gene associated with T-Cell Immunodeficiency with Thymic Aplasia is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. Affiliated tissues include thymus and skin, and related phenotypes are aplasia of the thymus and cellular immunodeficiency

Related ID：

MALACARDS：TCL025

OMIM：242700

MESH：D007153