Clinical, genetic and immunological study of human adenosine deaminase type 2 deficiency KU Leuven
Human adenosine deaminase type 2 (ADA2) deficiency is a recently described inborn error of immunity with a broad presentation including fever with cutaneous vasculitis but also intracranial hemorrhages, immunodeficiency and bone marrow anomalies. It carries important morbidity and substantial mortality (10%). Bi-allelic mutations in the gene ADA2 are responsible for this rare condition. The gene product, adenosine deaminase 2, plays a role in ...