[Common Variable Immunodeficiency as a Multisystem Disorder - A Case Report]

Common Variable Immunodeficiency (CVID) is the most common clinically significant primary immunodeficiency disorder, typically presenting with hypogammaglobulinemia and recurrent infections, with frequent sinopulmonary bacterial infections. Mechanistically, CVID is caused by abnormal B-cell maturation or function, and impaired ability to produce normal amounts or repertoire antibodies, and impaired ability to respond to neo-antigens. In addition to the resulting immunodeficiency, CVID can also involve immune dysregulation, in the form of autoimmunity involving different organ systems, or lymphoproliferation with lymphadenopathy and hepatosplenomegaly. In some patients, the non-infectious complications can present prior to the development of infections, or be the major clinical presentation, therefore potentially delaying CVID diagnosis and preventing optimal treatment. While treatment options to enhance immunity are well established and based on the administration of immunoglobulin replacement therapy, treatment of non-infectious complications are more challenging, either due to lack of well-established guidelines, or due to the need to initiate immunosuppressive treatment in an already immunocompromised patient. In this report we will describe a case of a complicated CVID patient with different aspects of immune dysregulation, and discuss the general approach for workup and treatment. This case highlights the complexity of CVID, and the need to see CVID as a multiorgan disorder, the treatment of which requires a multi-disciplinary approach with experts who are well aware of the disease and its potential complication.