infantile onset multisystem autoimmune disease 2

An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12.

Signs and symptoms

• Decreased circulating specific pneumococcal antibody concentration
• Increased CD4:CD8 ratio
• Linear IgG deposits along the epidermal basement membrane zone
• Impaired phytohemagglutinin-induced T lymphocyte transformation
• Podocyte foot process effacement
• Proteinuria
• Autoimmunity
• Nephrotic syndrome
• Colitis
• Minimal change glomerulonephritis