Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.

doi:10.1007/s10875-021-01052-0

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Article

Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.

Journal of clinical immunology - 1 Aug 2021

Lugo-Reyes Saul Oswaldo, Pastor Nina, González-Serrano Edith, Yamazaki-Nakashimada Marco Antonio, Scheffler-Mendoza Selma, Berron-Ruiz Laura, Wakida Guillermo, Nuñez-Nuñez Maria Enriqueta, Macias-Robles Ana Paola, Staines-Boone Aide Tamara, Venegas-Montoya Edna, Alaez-Verson Carmen, Molina-Garay Carolina, Flores-Lagunes Luis Leonardo, Carrillo-Sanchez Karol, Niemela Julie, Rosenzweig Sergio D, Gaytan Paul, Yañez Jorge A, Martinez-Duncker Ivan, Notarangelo Luigi D, Espinosa-Padilla Sara, Cruz-Munoz Mario Ernesto

Abstract excerpt

Mutations in recombinase activating genes 1 and 2 (RAG1/2) result in human severe combined immunodeficiency (SCID). The products of these genes are essential for V(D)J rearrangement of the antigen receptors during lymphocyte development. Mutations resulting in null-recombination activity in RAG1 or RAG2 are associated with the most severe clinical and immunological phenotypes, whereas patients with hypomorphic...

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PMID: 33954879
DOI: 10.1007/s10875-021-01052-0
PMCID: PMC8319791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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