GLILD IS THE INITIAL PRESENTATION OF CVID. A CASE REPORT

Abstract

Introduction Common variable immunodeficiency (CVID) is the most common clinically significant primary immunodeficiency in the adult. The risk for recurrent infections, lymphoproliferative, granulomatous and autoimmune diseases are high. We report a case of an adult female who presented initially with the clinical manifestations of granulomatous-lymphocytic interstitial lung disease (GILID) prior to CVID. Case Description Patient has a history of Asperger's syndrome who was referred to rule out primary immunodeficiency disorder. Patient was newly diagnosed with massive hepatosplenomegaly, diffuse lymphadenopathy, pancytopenia, hypogammaglobinemia and multiple pulmonary nodules after a comprehensive testing was performed for chronic abdominal pain. She denies any infectious disease history aside of recurrent acute sinusitis. At first, the malignancy was the major concern however all bone marrow, lymph node, BAL and trans-bronchial biopsies were negative. Although, splenectomy was done for the concern of lymphoma, pathology only revealed reactive follicular lymphoid hyperplasia. The immunological testes for autoimmune lymphoproliferative syndrome (ALPS), hyper-IgM syndrome and whole exam sequencing were negative. Later, interval increase of the mesenteric LN size was noted thus an open lung biopsy was completed which, demonstrated severe follicular bronchiolitis with associated prominent granulomatous inflammation; changes compatible with granulomatous-lymphocytic interstitial lung disease (GILID). Discussion The diagnosis of GLILD can be challenging and requires a multidisciplinary approach with thoughtful integration of clinical, radiologic, and pathological data. The presence of GLILD in patients with CVID associated with higher morbidity and mortality rate. The previous studies reported if a GLILD patient is left untreated, will lead to progressive respiratory failure which is the most common cause of death.