Immunodeficiency 47

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene. The condition is characterized by hepatopathy, splenomegaly, and recurrent infections in most, but not all, cases. Additional symptoms may include cutis laxa, fetal cystic hygroma, cardiac abnormalities, bilateral inguinal hernia, umbilical hernia, diaphragmatic hernia, pectus carinatum, micropenis/hypospadias, and neurological symptoms.