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Article

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.

Frontiers in immunology - 1 Jan 2020

Chitty-Lopez Maria, Westermann-Clark Emma, Dawson Irina, Ujhazi Boglarka, Csomos Krisztian, Dobbs Kerry, Le Khuong, Yamazaki Yasuhiro, Sadighi Akha Amir A, Chellapandian Deepak, Oshrine Ben, Notarangelo Luigi D, Sunkersett Gauri, Leiding Jennifer W, Walter Jolan E

Abstract excerpt

The T-cell receptor excision circle (TREC) assay detects T-cell lymphopenia (TCL) in newborns and is especially important to identify severe combined immunodeficiency (SCID). A spectrum of SCID variants and non-SCID conditions that present with TCL are being discovered with increasing frequency by newborn screening (NBS). Recombination-activating gene (RAG) deficiency is one the most common causes of classical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33117328
DOI: 10.3389/fimmu.2020.01954
PMCID: PMC7552884

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