Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19

Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19

Inborn errors of immunity (IEI) encompass a broad range of disorders with heterogeneous clinical presentations, often leading to challenges in early diagnosis. This study presents a case of a Brazilian patient with a T-B+NK- severe combined immunodeficiency (SCID) diagnosed at the age of 6 months wh...

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Bibliographic Details
Main Authors: Renan Cesar Sbruzzi, Mayara Jorgens Prado, Bibiana Fam, Helena Ashton Prolla, Alessandra Hellwig, Grazielle Motta Rodrigues, Fernanda de-Paris, Mariana Jobim, Osvaldo Artigalás, Yoann Seeleuthner, Jean-Laurent Casanova, Jacinta Bustamante, Fernanda Sales Luiz Vianna
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Immunology
Subjects:
SCID
case report
JAK3
whole exome sequencing
prolonged SARS-CoV-2
inborn errors of immunity
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1472957/full
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