Conditions / Genetic

common variable immunodeficiency 6

info ยท Genetic

A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p.

Signs and symptoms

  • Glomerulonephritis
  • Stage 5 chronic kidney disease
  • Complete or near-complete absence of specific antibody response to tetanus vaccine
  • Hepatomegaly
  • Chronic decreased circulating total IgG concentration
  • Macroscopic hematuria
  • Mesangial Immune complex deposition
  • Decreased circulating specific pneumococcal antibody concentration
  • Arthralgia
  • Purpura