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Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant. | LitMetric
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Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant.

Amit Rawat Ankita Singh Kerry Dobbs Francesca Pala Ottavia M Delmonte Pandiarajan Vignesh Ankur Kumar Jindal Anju Gupta Deepti Suri Anit Kaur Jitendra Kumar Shandilya Man Updesh Singh Sachdeva Mandeep Walia Jose R Regueiro Alejandro C Briones Luigi D Notarangelo Surjit Singh

J Clin Immunol

Paediatric Allergy Immunology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Postgraduate Institute of Medical Education & Research, Sector 12, Chandigarh, 160012, India.

Published: August 2021

We report a non-consanguineous family from North-west India in which 3 siblings succumbed to a rare variant of combined immunodeficiency. All three had similar clinical and immunological profiles. However, the youngest child also developed Non-Hodgkin lymphoma in infancy. Genetic analysis revealed a previously reported variant in the T cell receptor alpha constant () gene.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316983PMC
http://dx.doi.org/10.1007/s10875-021-01047-xDOI Listing

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