Associated Papers
Rubella-associated granuloma in a patient with a compound heterozygous RAG1 defect and review of the literature.
Akarsu A et al.
Immunologic Research, 2025
Restoration of T and B Cell Differentiation after RAG1 Gene Transfer in Human RAG1 Defective Hematopoietic Stem Cells.
Sorel N et al.
Biomedicines, 2024
Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.
Chen X et al.
Frontiers in Immunology, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Csomos K et al.
Nature Immunology, 2022
35902638 (PubMed )
Supplement: 41590_2022_1271_MOESM1_ESM.xlsx › Table_2
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 2020
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J et al.
Frontiers in Immunology, 2019
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2015
Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E et al.
Clinical Immunology (orlando, Fla.), 2011
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
Gruber TA et al.
Pediatric Transplantation, 2009
Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase.
Huye LE et al.
Molecular and Cellular Biology, 2002
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
Corneo B et al.
Blood, 2001
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A et al.
Blood, 2001
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
Farmer JR et al.
The Journal of Allergy and Clinical Immunology. in Practice, 0
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