P113 | To connect the dots: the role of the internist in a case of immune deficiency

Case report: A 64-years-old female affected by Fisher-Evans Syndrome on treatment with intravenous immunoglobulin was admitted to our Unit due to the development of severe thrombocytopenia. She also referred an history of granulomatous lymphoproliferative interstitial lung disease (GLILD), recurrent pulmonary and urinary infections, and a previous resection of a mass-forming non-clonal lympho-plasma cellular proliferation from the anterior abdominal wall. Acute thrombocytopenia was treated with intravenous corticosteroids. To clarify the picture of co-existing multiple immune-mediated disorders the choice was made to perform further blood tests: low levels of IgG and IgA were observed, associated with remarkably increased IgM. On the suggestion of the clinical immunology consultant, extended lymphocytes subpopulation study was performed, whose results was consistent with diagnosis of Common Variable Immune Deficiency. The patient was referred to a clinical immunology specialist after discharge. Conclusions: Common variable immune deficiency should be considered not only as an immune deficiency, rather as an immune-dysregulation, with non-infectious manifestation that not only may represent the first or main elements of presentation but are also associated with increased morbidity and mortality. Those disorders in adult patients often represent a neglected topic, due to the complexity of the clinical presentation that often leads to multiple and inconclusive evaluation by specialist physicians, rather than to a holistic evaluation capable of recognize the hints to an immune-related disease.