Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.

Abstract excerpt

22q11.2 deletion syndrome (DiGeorge), CHARGE syndrome, Nude/SCID and otofaciocervical syndrome type 2 (OTFCS2) are distinct clinical conditions in humans that can result in hypoplasia and occasionally, aplasia of the thymus. Thymic hypoplasia/aplasia is first suggested by absence or significantly reduced numbers of recent thymic emigrants, revealed in standard-of-care newborn screens for T cell receptor excision...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Branchio-Oto-Renal Syndrome
• Share to CHARGE Syndrome
• Share to DiGeorge Syndrome