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Skewed TCR alpha, but not beta, gene rearrangements and lymphoma associated with a pathogenic TRAC variant

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https://doi.org/10.1007/s10875-021-01047-x

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2021

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https://hdl.handle.net/20.500.14352/106044

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Rawat, A., Singh, A., Dobbs, K. et al. Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant. J Clin Immunol 41, 1395–1399 (2021). https://doi.org/10.1007/s10875-021-01047-x

Abstract

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 (TRAC) gene.

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Inmunología

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2412 Inmunología

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