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

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 n...

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Autors principals:	Maria Chitty-Lopez, Emma Westermann-Clark, Irina Dawson, Boglarka Ujhazi, Krisztian Csomos, Kerry Dobbs, Khuong Le, Yasuhiro Yamazaki, Amir A. Sadighi Akha, Deepak Chellapandian, Ben Oshrine, Luigi D. Notarangelo, Gauri Sunkersett, Jennifer W. Leiding, Jolan E. Walter
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2020-09-01
Col·lecció:	Frontiers in Immunology
Matèries:	recombinase activating gene (RAG) newborn screening SCID asymptomatic infant immunodeficiency HSCT
Accés en línia:	https://www.frontiersin.org/article/10.3389/fimmu.2020.01954/full
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