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


rs104893894 in IL7R gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive PMID 11023514 2000 A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.

PMID 9843216 1998 Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.

PMID 27833609 2016 A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis.

PMID 17827065 2007 IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.

PMID 24759676 2014 Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.

PMID 15661025 2005 Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

PMID 16492442 2006 Omenn syndrome in an infant with IL7RA gene mutation.

PMID 25046553 2014 Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.

rs200803157 in LOC105374724;IL7R gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive PMID 21664875 2011 Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

PMID 26123418 2015 Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis.

rs1553243550 in PTPRC gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive PMID 10700239 2000 Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.