Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity
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Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestationsAdvances in basic and clinical immunology in 2013Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesEarly-onset autoimmune disease as a manifestation of primary immunodeficiencyHuman RAG mutations: biochemistry and clinical implicationsCompound heterozygous mutation of Rag1 leading to Omenn syndromeAutoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatmentLeaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide AntigensBroad-spectrum antibodies against self-antigens and cytokines in RAG deficiencyLate Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes.Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.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.Characterization of T and B cell repertoire diversity in patients with RAG deficiencyThe changing face of polyarteritis nodosa and necrotizing vasculitis.Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients.Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.RAG1 deficiency may present clinically as selective IgA deficiency.Hematopoietic cell transplantation in primary immunodeficiency - conventional and emerging indications.Autoimmunity and primary immunodeficiency: two sides of the same coin?Partial RAG Deficiency in a Patient with Varicella Infection, Autoimmune Cytopenia, and Anti-Cytokine Antibodies.Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.Rare autoimmune disorders with Mendelian inheritance.Hypomorphic Rag1 mutations alter the pre-immune repertoire at early stages of lymphoid development.
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P2860
Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 24 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Expanding the spectrum of reco ...... with early-onset autoimmunity
@en
Expanding the spectrum of reco ...... with early-onset autoimmunity.
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type
label
Expanding the spectrum of reco ...... with early-onset autoimmunity
@en
Expanding the spectrum of reco ...... with early-onset autoimmunity.
@nl
prefLabel
Expanding the spectrum of reco ...... with early-onset autoimmunity
@en
Expanding the spectrum of reco ...... with early-onset autoimmunity.
@nl
P2093
P2860
P1476
Expanding the spectrum of reco ...... with early-onset autoimmunity
@en
P2093
Gregory Hopkins
Helen de Boer
Jolan E Walter
Lauren A Henderson
Luigi D Notarangelo
Melissa M Hazen
Sung-Yun Pai
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P304
969-71.e1-2
P356
10.1016/J.JACI.2013.06.032
P407
P577
2013-07-24T00:00:00Z