부산대학교 도서관

Pulmonary complications are one the main causes of morbidity and mortality in patients with common variable immunodeficiency (CVID). Although CVID pathogenesis is not completely understood, several genes have been identified to mainly regulate the process of terminal B-cell differentiation, antibody isotype maturation and long-life memory/plasma cell generation. The link between underlying genetic defects and the prognosis of developing different clinical complications like different pulmonary manifestations is still elusive. We provide an overview of recent advancements in the monogenic form of CVID which lead to dysregulation of B-cells at different levels of cytokine stimulations, intracellular signaling, transcriptionfactor activation, gene transcription and epigenetic controls and predispose patients to different pulmonary complications. The susceptibility to Coronavirus disease 2019 pulmonary complications was discussed in these patients. Monogenic forms of CVID have a distinct pattern in different infectious and non-infectious pulmonary manifestations including autoimmunity, atopy, lymphoproliferation, and cancer. Keywords: Primary immunodeficiency, inborn errors of immunity, common variable immunodeficiency, genetic, respiratory complications
Introduction Terminal B-cell immune system defects cause common variable immunodeficiency (CVID). CVID patients are more susceptible to experiencing recurrent infections [mainly due to lack of production of immunoglobulins (Igs)] and [...]