Condition: Severe Combined Immunodeficiency


rs121908735 in ADA gene and Severe Combined Immunodeficiency PMID 22447032 2012 Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.

PMID 9758612 1998 Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

PMID 26255240 2015 Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

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

rs751635016 in ADA;PKIG gene and Severe Combined Immunodeficiency PMID 19179314 2009 Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

rs1057520020 in JAK3 gene and Severe Combined Immunodeficiency PMID 18559588 2008 Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers.

rs150739647 in RAG1;RAG2 gene and Severe Combined Immunodeficiency 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 25869295 2015 Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.

PMID 18768869 2008 A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction.

PMID 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.

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.

PMID 11213808 2000 The genetic and biochemical basis of Omenn syndrome.

PMID 27484032 2016 Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

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