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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/15661025, https://www.ncbi.nlm.nih.gov/pubmed/9068311, https://www.ncbi.nlm.nih.gov/pubmed/9843216
Xrefs

ICD10CM:D81.2

MESH:C563822

MIM:608971

ORDO:169154

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

is_a severe combined immunodeficiency

is_a autosomal recessive disease

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