immunodeficiency 19

Term ID

DOID:0111972

Synonyms

• CD3-delta deficiency
• IMD19
• SCID T cell-negative, B cell-positive, NK cell-positive
• severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive

Definition

A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. (2)

References

• OMIM:615617
• UMLS_CUI:C3810147

Ontology

Human Disease   ( DOID:0111972 )