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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/9068311, https://www.ncbi.nlm.nih.gov/pubmed/9843216
Xrefs	ICD10CM:D81.2 MESH:C563822 OMIM:608971 ORDO:169154
Subsets	DO_rare_slim
Synonyms	autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID [EXACT]
Parent Relationships	is_a severe combined immunodeficiency is_a autosomal recessive disease