ATP6AP1 primary immunodeficiency diseaseIMD47immunodeficiency 47immunodeficiency 47, X-linked recessiveimmunodeficiency 47; IMD47immunodeficiency type 47primary immunodeficiency disease caused by mutation in ATP6AP1immunodeficiency and hepatopathy with or without neurologic features
Definition
Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.
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