immunodeficiency 48

A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the Z

A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.

Signs and symptoms

• Complete or near-complete absence of specific antibody response to tetanus vaccine
• Absent circulating isohemagglutinin
• Impaired phytohemagglutinin-induced T lymphocyte transformation
• Lymphadenopathy
• Pneumocystis jirovecii pneumonia
• Decreased CD4+ T cell ZAP-70 protein expression
• Recurrent Candida infection
• Oral ulcer
• Absence of CD8+ T cells
• Persistent fever

Also known as: IMD48; combined immunodeficiency due to ZAP70 deficiency; zeta-associated-protein 70 deficiency