Search Ontology:
Human Disease

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive

Term ID
DOID:0090014
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
  • interleukin-7 receptor alpha deficiency
  • severe combined immunodeficiency 104
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. (3)
References
Ontology
Human Disease   ( DOID:0090014 )
Relationships
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Genes Involved
Zebrafish Models