immunodeficiency 91

A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound hetero

A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13.

Signs and symptoms

• Severe viral infection
• Hepatomegaly
• Elevated circulating hepatic transaminase concentration
• Increased total monocyte count
• Increased circulating lactate dehydrogenase concentration
• Lymphadenopathy
• Extrapulmonary tuberculosis
• Hepatosplenomegaly
• Thrombocytopenia
• Seizure

Also known as: immunodeficiency 91 and hyperinflammation