Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge Syndrome

Capsule summary: A new microdeletion syndrome at chromosome 2p11.2 describes a likely new cause of thymic hypoplasia due to haploinsufficiency of FOXI3.

Source: Journal of Allergy and Clinical Immunology - October 6, 2019 Category: Allergy & Immunology Authors: Joshua D. Bernstock, Arthur H. Totten, Abdel G. Elkahloun, Kory R. Johnson, Anna C. Hurst, Frederick Goldman, Andrew K. Groves, Fady M. Mikhail, T.Prescott Atkinson Source Type: research