immunodeficiency 87

A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with

A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia.

Signs and symptoms

• Decreased total CD4+ T cell proportion
• Recurrent bacterial infections
• Increased fecal calprotectin level
• Recurrent viral infections
• Recurrent fungal infections
• Inverted CD4:CD8 ratio
• Persistent EBV viremia
• Hepatomegaly
• Metabolic acidosis
• Small for gestational age

Also known as: immunodeficiency 87 and autoimmunity