Metadata | |
---|---|
ID | DOID:0090014 |
Name | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive |
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. https://www.ncbi.nlm.nih.gov/pubmed/15661025, https://www.ncbi.nlm.nih.gov/pubmed/9068311, https://www.ncbi.nlm.nih.gov/pubmed/9843216 |
Xrefs | |
Alternateids |
DOID:0060015 |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID [EXACT] interleukin-7 receptor alpha deficiency [EXACT] severe combined immunodeficiency 104 [EXACT] |
Parent Relationships |