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Article

A Novel Pathogenic Variant in TRAC Gene Associated with SCID Phenotype: Expanding the Genetic and Clinical Spectrum.

Journal of clinical immunology - 26 Mar 2026

Karaselek Mehmet Ali, Ozbey Mehmet Yavuz, Uygun Vedat, Kuccukturk Serkan, Karabey Necdet, Tokdemir Ugur, Ozel Gokhan, Demircioglu Zeynep Dilruba, Yildirim Serhat, Sahin Ali, Duran Tugce, Akkus Abdullah, Yildirim Selman, Guner Sukru, Reisli İsmail, Keles Sevgi

Abstract excerpt

PURPOSE: Pathogenic variants in the T-cell receptor alpha constant (TRAC) gene have been primarily associated with combined immunodeficiency (CID). To date, only five patients from three unrelated families harboring the same TRAC variant with a CID phenotype, and three patients carrying a distinct variant with severe combined immunodeficiency (SCID), have been described. We report a previously unreported...

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Identifiers

PMID: 41882383
DOI: 10.1007/s10875-026-02003-3
PMCID: PMC13139271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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