severe combined immunodeficiency 104

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
• interleukin-7 receptor alpha deficiency
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive

Definition

A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. (4)

References

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

Ontology

Human Disease   ( DOID:0090014 )