Article

Whole Exome Sequencing Identified a Pathogenic IL2RG Variant in Monozygotic Twins with Severe Combined Immunodeficiency

2025-03-31

Abstract excerpt

<title>Abstract</title> <p>Purpose This study aimed to determine the genetic cause of severe combined immunodeficiency (SCID) in monozygotic twin male infants who presented with recurrent severe infections and disseminated BCG-related complications. Methods Whole Exome Sequencing (WES) was performed on one twin to identify candidate pathogenic variants. The detected IL2RG variant was validated through PCR and S...

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Literature Corpus work: ec17481e-935c-52b7-b1c2-09fb02c4f69c
DOI: 10.21203/rs.3.rs-6234637/v1

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