immunodeficiency 19

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

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.

Signs and symptoms

• Decreased total T cell count
• Severe viral infection
• Severe combined immunodeficiency
• Failure to thrive
• Recurrent otitis media
• Recurrent respiratory infections
• Chronic diarrhea
• Abnormal natural killer cell morphology
• Abnormal B cell morphology

Also known as: 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