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01 · ABSTRACT

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.

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02 · PUBLICATION RECORD

Article details

JournalMedical Research Archives
IssueVol 10 No 8 (2022): VOl.10 Issue 8, AUGUST issue
SectionReview Articles
Published18 August 2022
DOI10.18103/mra.v10i8.3052
ISSN2375-1924
03 · RIGHTS & REUSE

Rights & reuse

This article is published under a Creative Commons Attribution License (CC BY 3.0) and may be shared or distributed by anyone as long as attribution is given to the journal.

Authors & affiliations

ES

Elizabeth A Secord

Wayne State University, Department of Pediatrics, Division of Allergy and Immunology, Detroit MI 48201

Medical Research Archives

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