immunodeficiency 115

A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11.

Signs and symptoms

• Hypoalbuminemia
• Fatty replacement of skeletal muscle
• Decreased antigen-specific T cell proliferation
• Decreased memory T cell proportion
• Recurrent bacterial infections
• Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine
• Splenomegaly
• Superficial dermal perivascular inflammatory infiltrate
• Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide
• Elevated erythrocyte sedimentation rate

Also known as: immunodeficiency 115 with autoinflammation