Abnormal newborn screen in a whim syndrome patient

Newborn screen (NBS) for primary immunodeficiency is performed in the vast majority of states. Dried blood spots are collected from infants. The samples undergo quantitative PCR to quantify T cell receptor excision circles (TRECs). This screening detects Severe Combined Immunodeficiency (SCID) as well as hypomorphic mutations in SCID genes, conditions resulting in the arrest of T cell development such as DiGeorge syndrome and conditions presenting with T cell lymphopenia.

Source: Annals of Allergy, Asthma and Immunology - November 1, 2018 Category: Allergy & Immunology Authors: M. Evans, M. Petersen, D. McDermott, P. Murphy Tags: M229 Source Type: research