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

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. (2)

References

• ICD10CM:D81.2
• MESH:C563822
• OMIM:608971
• ORDO:169154

Ontology

Human Disease   ( DOID:0090014 )