Condition: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive


rs121917894 in IFTAP;RAG2 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 8810255 1996 RAG mutations in human B cell-negative SCID.

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 16960852 2006 RAG-dependent primary immunodeficiencies.

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

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.

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

rs104894291 in RAG1 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 19830075 2009 Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

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

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

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

PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

PMID 18056378 2007 Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome.

PMID 20489056 2010 Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

PMID 10701853 2000 Prenatal diagnosis of RAG-deficient Omenn syndrome.

PMID 25516070 2015 Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

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

PMID 8810255 1996 RAG mutations in human B cell-negative SCID.

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

PMID 18822103 2009 Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.

PMID 19064334 2009 Saving the red baby: successful allogeneic cord blood transplantation in 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.

rs121918572 in RAG1;RAG2 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 18701881 2009 A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.

PMID 19458910 2009 Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

PMID 17572155 2007 GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

rs121917895 in RAG2;IFTAP gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

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

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

PMID 16111638 2005 A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination.

PMID 18033247 2007 RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.

PMID 26692406 2016 Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency.

rs121918573 in RAG2;IFTAP;RAG1 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 8810255 1996 RAG mutations in human B cell-negative SCID.

rs539590514 in RAG2;RAG1 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 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 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

PMID 18442948 2008 Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.

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