Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.

doi:10.1007/s10875-022-01361-y

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Article

Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.

Journal of clinical immunology - 1 Jan 2023

López-Nevado Marta, Ortiz-Martín Javier, Serrano Cristina, Pérez-Saez María A, López-Lorenzo José L, Gil-Etayo Francisco J, Rodríguez-Frías Edgar, Cabrera-Marante Oscar, Morales-Pérez Pablo, Rodríguez-Pinilla María S, Manso Rebeca, Salgado-Sánchez Rocío N, Cerdá-Montagud Ana, Quesada-Espinosa Juan F, Gómez-Rodríguez María J, Paz-Artal Estela, Muñoz-Calleja Cecilia, Arranz-Sáez Reyes, Allende Luis M

Abstract excerpt

Somatic mutations in the ten-eleven translocation methylcytosine dioxygenase 2 gene (TET2) have been associated to hematologic malignancies. More recently, biallelic, and monoallelic germline mutations conferring susceptibility to lymphoid and myeloid cancer have been described. We report two unrelated autoimmune lymphoproliferative syndrome-like patients who presented with T-cell lymphoma associated with novel...

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PMID: 36066697
DOI: 10.1007/s10875-022-01361-y

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