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

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dc.contributor.authorRawat, Amit
dc.contributor.authorRegueiro González-Barros, José Ramón
dc.contributor.authorBriones Contreras, Alejandro
dc.contributor.authorSingh, Surjit
dc.date.accessioned2024-07-12T12:57:08Z
dc.date.available2024-07-12T12:57:08Z
dc.date.issued2021
dc.description.abstractWe 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.
dc.description.departmentDepto. de Inmunología, Oftalmología y ORL
dc.description.facultyFac. de Medicina
dc.description.refereedTRUE
dc.description.statuspub
dc.identifier.citationRawat, 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
dc.identifier.doi10.1007/s10875-021-01047-x
dc.identifier.essn1573-2592
dc.identifier.officialurlhttps://doi.org/10.1007/s10875-021-01047-x
dc.identifier.urihttps://hdl.handle.net/20.500.14352/106044
dc.issue.number6
dc.language.isoeng
dc.publisherSpringer
dc.rights.accessRightsrestricted access
dc.subject.cdu612.017
dc.subject.keywordNon-Hodgkin lymphoma
dc.subject.keywordRearrangements
dc.subject.keywordSevere combined immunodeficiency
dc.subject.keywordT cell receptor alpha constant gene
dc.subject.ucmInmunología
dc.subject.unesco2412 Inmunología
dc.titleSkewed TCR alpha, but not beta, gene rearrangements and lymphoma associated with a pathogenic TRAC variant
dc.typejournal article
dc.type.hasVersionAM
dc.volume.number41
dspace.entity.typePublication
relation.isAuthorOfPublicationf497ca90-fd08-440c-a7a2-abaa7dee0039
relation.isAuthorOfPublication912a4d06-fa9e-4f95-ac04-6a325cbc05da
relation.isAuthorOfPublication.latestForDiscoveryf497ca90-fd08-440c-a7a2-abaa7dee0039

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