An unexpected diagnosis

Abstract

MD is a 15-year-old male with an unusual progression of disease that had led to the decision to progress to bone marrow transplant. MD first presented with idiopathic thrombocytopenic purpura for which he had previously had a splenomegaly. Incidentally he was found to be hypogammaglobulinaemic with a history of recurrent episodes of lymphadenopathy and fever. Further investigations identified widespread granulomas. With a diagnosis of combined variable immunodeficiency he was commenced on immunoglobulin replacement. MD's story took a further turn when he acutely developed hepatopulmonary syndrome and required a liver transplant. He has been on multiple immunosuppressants post liver transplant. The struggle to manage his evolving inflammatory episodes characterized by fevers, lethargy and lymphadenopathy along with the evolution of his granulomas has been of great concern. In an effort to further characterize his underlying disease genetics identified a mutation in XIAP which corresponds to deficient XIAP on functional testing. This case highlights the expanding understanding of the XIAP deficiency phenotype.L6317768632020-05-25 <br />