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.

2021-02-17

Abstract excerpt

<title>Abstract</title> <p>Mutations in Recombinase Activating Genes 1 and 2 (<italic>RAG1/2</italic>) results 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. Nonsense mutations in <italic>RAG1</italic> or <italic>RAG2</italic> are associated with the most severe clinical and immunological...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e60ef08e-f95c-513a-aebd-12766f159049
DOI: 10.21203/rs.3.rs-202390/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

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 10.21203/rs.3.rs-202390/v1Read

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

Clinical Manifestations and Immunologic Phenotype in Patients With RAG1/2 Mutations: A Single Centre Experience and Description of A Novel Mutation.Semantic proximity Read

Highly variable clinical phenotypes of hypomorphic RAG1 mutations.Semantic proximity Read

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.Semantic proximity Read

Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.Semantic proximity Read

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Semantic proximity Read

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.Semantic proximity Read

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.Semantic proximity Read

Omenn Syndrome and DNA recombination defects.Semantic proximity Read

Novel RAG1 mutation and the occurrence of mycobacterial and Chromobacterium violaceum infections in a case of leaky SCID.Semantic proximity Read

[Primary immunodeficiencies. Clinical features and variant forms].Semantic proximity Read

Clinical, Immunological and Molecular Variability of RAG Deficiency: a Retrospective Analysis of 22 RAG PatientsSemantic proximity Read