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Metadata
DOID 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
Synonyms

autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID [EXACT]

Xrefs

ICD10CM:D81.2

OMIM:608971

ORDO:169154

Relationships

is_a severe combined immunodeficiency

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