OBO ID: DOID:0090014
Term Name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Search Ontology:
Synonyms:
  • autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
  • autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
Definition: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. (2)
References:
Ontology: Human Disease   (DOID:0090014)
OTHER severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type 608971
PTPRC Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 608971
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None