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Home  >  Medical Research Archives  >  Issue 149  > Conditions Other than Severe Combined Immune Deficiency Found on SCID Newborn Screening
Published in the Medical Research Archives
Aug 2022 Issue

Conditions Other than Severe Combined Immune Deficiency Found on SCID Newborn Screening

Published on Aug 18, 2022

DOI 

Abstract

 

Severe combined immune deficiency (SCID) is caused by a wide variety of genetic variants that result in absent or diminished levels of mature and functional T cells.  SCID Newborn Screening programs that detect T cell receptor excision circles have resulted in early intervention and improvement in survival rates in infants with SCID but have also identified other conditions with low T cells.  These conditions trigger what could be thought of as false positive tests for SCID, but for the most part they do reflect low T cells in conditions other than SCID. The scope of this review is entities other than severe combined immune deficiency that cause low T cell receptor excision circles (TRECs) and are thus identified on newborn screening.  Secondary immune deficiencies from prematurity, neonatal medical conditions, hypomorphic or incomplete variants of SCID, transient T cell lymphopenia of infancy, and primary immune deficiencies that do not qualify as SCID are all elaborated.   Identification and treatment options for these conditions leading to low TRECs are discussed.

Author info

Elizabeth Secord, Joudeh Freij

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