gd T lymphocytes in the diagnosis of human T cell receptor
immunodeficiencies

Garcillán Goyoaga, Beatriz de; Marín Marín, Ana Victoria; Jiménez Reinoso, Anaïs; Briones Contreras, Alejandro; Muñoz Ruiz, Miguel; García León, María J; Gil Calle, Juana Nelly; Allende Martínez, Luis Miguel; Martínez Naves, Eduardo; Toribio, Maria Luisa; Regueiro González-Barros, José Ramón

gd T lymphocytes in the diagnosis of human T cell receptor immunodeficiencies

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Official URL

https://doi.org/10.3389/fimmu.2015.00020

Publication date

2015

Publisher

Frontiers Media

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URI

https://hdl.handle.net/20.500.14352/23905

Abstract

Human T cell receptor (TCR) immunodeficiencies (TCRID) are rare autosomal recessive disorders caused by mutations affecting TCR, CD3, or CD247 chains, which share developmental, functional, and TCR expression defects (1). Their rapid diagnosis is fundamental for patient survival and early hematopoietic stemcell transplantation.Here,we propose that studying gd T cells, which are often neglected, can be helpful for a timely diagnosis. We thus offer a diagnostic flowchart and some lab tricks based on published cases.