Condition: Omenn Syndrome


rs148508754 in IFTAP;RAG2 gene and Omenn Syndrome PMID 11313270 2001 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.

PMID 15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

PMID 23243423 2012 Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

PMID 25707801 2015 Crystal structure of the V(D)J recombinase RAG1-RAG2.

PMID 26186701 2015 Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.

PMID 10891502 2000 Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.

rs1204766339 in IFTAP;RAG2;RAG1 gene and Omenn Syndrome PMID 22841008 2012 A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

PMID 26457731 2015 Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

PMID 10891502 2000 Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.

PMID 12200379 2002 The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.

rs121908159 in MEIG1;DCLRE1C gene and Omenn Syndrome PMID 15731174 2005 Omenn syndrome due to ARTEMIS mutations.

PMID 25917813 2015 Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

PMID 15071507 2004 Functional and biochemical dissection of the structure-specific nuclease ARTEMIS.

PMID 19953608 2010 The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.

rs104894284 in RAG1 gene and Omenn Syndrome PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 10606976 2000 Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

PMID 11908269 2002 Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.

PMID 11971977 2002 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.

PMID 20956421 2010 Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

PMID 21664875 2011 Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

PMID 17075247 2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

PMID 17176792 2007 Necrotizing enterocolitis in an infant with Omenn syndrome.

rs1564995611 in RAG1;IFTAP;RAG2 gene and Omenn Syndrome PMID 19470080 2009 Omenn syndrome due to mutation of the RAG2 gene.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

rs150739647 in RAG1;RAG2 gene and Omenn Syndrome PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 10606976 2000 Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

rs121917895 in RAG2;IFTAP gene and Omenn Syndrome PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.

rs104894290 in RAG2;RAG1 gene and Omenn Syndrome PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 10606976 2000 Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

rs773710101 in RAG2;RAG1;IFTAP gene and Omenn Syndrome PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.