To describe clinical, genetic and histopathologic correlations of a patient with commune variable immunodeficiency (CIVD) who developed autoimmune cytopenia, pulmonary granulomatosis, chronic Epstein–Barr virus (EBV) infection and Burkitt lymphoma.
A 50-years-old man was admitted to our Hospital in 2018 with complains of weakness, left eye ptosis, back pain and chronic EBV infection. He is known case of CVID with Evans syndrome since he was 26 y/o under treatment with IVIG and corticosteroid. At age 36 y/o he underwent splenectomy for a spontaneous spleen rupture due to medical therapy refractory. In 2013 he developed respiratory symptoms with dyspnea on exertion leading to bronchoscopy with lung and lymph node biopsies provided the histological evidence of diffuse non-caseating granulomas. The patient underwent blood and cerebrospinal fluid (CSF) tests, bone marrow and vertebral biopsy, 18FDG-PET, brain and spinal MRI with neurological examination. A genetic analysis for the main genes associated with CVID was performed.
18FDG-PET showed severe hypemethabolismin in multiple bone lesions, bilateral lungs, kidneys, stomach and several lymph nodes (upper paratracheal right, retrosternal, periaortic, common and external right iliac and perirecta). MRI showed several sclerotic vertebral lesions. Bone marrow evaluation provided histopathologic evidences of Burkitt lymphoma. Genetic analysis revealed a rare variant of JAK2 mutation, previously associated with chronic myelomonocytic leukemia.
We have described the first case of CVID patient with pulmonary granulomatosis, Burkitt lymphoma and the association of a rare variant of JAK2 mutation. Distinguishing between different phenotypes of CVID is critical, given the poor prognosis and the different underlying genetic mutation.