Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency

ConclusionsOur findings support rapidly screening infants with a positive NBS for SCID, but without SCID, for 22q11.2DS even when typically associated features such as CHD are absent, particularly when B cells and NK cells are normal. Moreover, direct NBS for 22q11.2DS using multiplex qPCR would be equally, if not more, beneficial, as early identification of 22q11.2DS will obviate a protracted diagnostic odyssey while providing an opportunity for timely assessment and interventions as needed, even in the absence of T cell lymphopenia.

http://link.springer.com/10.1007/s10875-017-0403-9

Source: Journal of Clinical Immunology - May 24, 2017 Category: Allergy & Immunology Source Type: research