Condition: Primary immune deficiency disorder


rs121917897 in IFTAP;RAG2 gene and Primary immune deficiency disorder 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 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

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

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

rs1204766339 in IFTAP;RAG2;RAG1 gene and Primary immune deficiency disorder PMID 26457731 2015 Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

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 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.

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.

rs374657927 in LOC107986556;RIPK1 gene and Primary immune deficiency disorder PMID 30591564 2019 Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

rs1564995611 in RAG1;IFTAP;RAG2 gene and Primary immune deficiency disorder PMID 19470080 2009 Omenn syndrome due to mutation of the RAG2 gene.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

rs121917895 in RAG2;IFTAP gene and Primary immune deficiency disorder PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

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

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

rs773710101 in RAG2;RAG1;IFTAP gene and Primary immune deficiency disorder PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.

rs1561772403 in RIPK1 gene and Primary immune deficiency disorder PMID 30591564 2019 Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

rs116040763 in RIPK1;LOC107986556 gene and Primary immune deficiency disorder PMID 30591564 2019 Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.