A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
about
Human RAG mutations: biochemistry and clinical implicationsAutoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management.Autoimmunity in primary T-cell immunodeficiencies.Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide AntigensIdentification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disordersDisseminated Primary Herpes Simplex Virus Type 2 Infection in a 22-Year-Old maleDNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation.Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiencyProgrammed DNA breaks in lymphoid cells: repair mechanisms and consequences in human diseaseCharacterization of T and B cell repertoire diversity in patients with RAG deficiencyThe role of toll-like receptors in B-cell development and immunopathogenesis of common variable immunodeficiency.Genes associated with common variable immunodeficiency: one diagnosis to rule them all?Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.Recent advances in the study of immunodeficiency and DNA damage response.Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.Common Variable Immunodeficiency and Liver Involvement.Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.Efficacy of lentiviral mediated gene therapy in an Omenn syndrome Rag2 mouse model is not hindered by inflammation and immune dysregulation.Hematopoietic cell transplantation in primary immunodeficiency - conventional and emerging indications.Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas.
P2860
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P2860
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A hypomorphic recombination-ac ...... mon variable immunodeficiency.
@ast
A hypomorphic recombination-ac ...... mon variable immunodeficiency.
@en
type
label
A hypomorphic recombination-ac ...... mon variable immunodeficiency.
@ast
A hypomorphic recombination-ac ...... mon variable immunodeficiency.
@en
prefLabel
A hypomorphic recombination-ac ...... mon variable immunodeficiency.
@ast
A hypomorphic recombination-ac ...... mon variable immunodeficiency.
@en
P2093
P2860
P50
P1476
A hypomorphic recombination-ac ...... mmon variable immunodeficiency
@en
P2093
Lennart Hammarström
Luigi D Notarangelo
P2860
P304
P356
10.1016/J.JACI.2014.04.042
P407
P50
P577
2014-07-02T00:00:00Z