V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
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VprBP binds full-length RAG1 and is required for B-cell development and V(D)J recombination fidelityThe plant homeodomain finger of RAG2 recognizes histone H3 methylated at both lysine-4 and arginine-2DNA-PKcs dependence of Artemis endonucleolytic activity, differences between hairpins and 5' or 3' overhangs.Application of Flow Cytometry in the Evaluation of Primary Immunodeficienciesαβ T cell receptors as predictors of health and diseaseMutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE reviewRole of non-homologous end joining in V(D)J recombinationPutting the pieces together: identification and characterization of structural domains in the V(D)J recombination protein RAG1The taming of a transposon: V(D)J recombination and the immune systemHuman RAG mutations: biochemistry and clinical implicationsAutoubiquitylation of the V(D)J recombinase protein RAG1Compound heterozygous mutation of Rag1 leading to Omenn syndromeA PHD finger motif in the C terminus of RAG2 modulates recombination activityOptimized cell transplantation using adult rag2 mutant zebrafish.Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi ArabiaA phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedsideAdaptive immunity to murine skin commensals.Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndromeExpansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.Generation of functional antigen-specific T cells in defined genetic backgrounds by retrovirus-mediated expression of TCR cDNAs in hematopoietic precursor cells.A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.Generation of recombination activating gene-1-deficient neonatal piglets: a model of T and B cell deficient severe combined immune deficiency.Immunoglobulin E in primary immunodeficiency diseases.Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiencyGenotype, phenotype, and outcomes of nine patients with T-B+NK+ SCIDImmature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination.Artemis sheds new light on V(D)J recombination.New concepts in the regulation of an ancient reaction: transposition by RAG1/RAG2.Role of RAG1 autoubiquitination in V(D)J recombination.Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.A Toddler With Rash, Encephalopathy, and Hemolytic Anemia.Maternal T-Cell Engraftment Interferes With Human Leukocyte Antigen Typing in Severe Combined ImmunodeficiencyV(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.Primary immunodeficiencies associated with DNA-repair disorders.Severe combined immunodeficiences: new and old scenarios.Ubiquitination events that regulate recombination of immunoglobulin Loci gene segments.Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.The central domain of core RAG1 preferentially recognizes single-stranded recombination signal sequence heptamer.From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients.
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P2860
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
description
im Januar 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 January 2001
@en
наукова стаття, опублікована в січні 2001
@uk
name
V(D)J recombination defects in ...... trum of clinical presentations
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type
label
V(D)J recombination defects in ...... trum of clinical presentations
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prefLabel
V(D)J recombination defects in ...... trum of clinical presentations
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P2093
P50
P356
P1433
P1476
V(D)J recombination defects in ...... trum of clinical presentations
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P2093
A J Infante
A M Filipovich
C Sobacchi
E G Brooks
E Mazzolari
P356
10.1182/BLOOD.V97.1.81
P407
P577
2001-01-01T00:00:00Z