Abstract
Сommon variable immunodeficiency is the most prevalent form of inborn errors of immunity, however, genetic cause may be identified in less than a third of the cases. Pathogenic variants in the subunit 1 of nuclear factor κB are thought to be one of the most frequent monogenic causes of common variable immunodeficiency. Besides the humoral immunodeficiency, NFKB1 defect is characterized by a wide range of autoimmune, autoinflammatory and hematological features. To date, there are no standardized guidelines for immunosuppressive or anti-inflammatory therapy in patients with NFKB1 deficiency. We report on a 62 year old woman with common variable immunodeficiency due to heterozygous mutation in the NFKB1 gene, complicated by a systemic form of Still’s disease. Since initiation of the anti-cytokine therapy with the interleukin 6 antagonist olokizumab, resolution of constitutional symptoms has been achieved. Over the 1.5-years follow-up there has been an improvement on lymphadenopathy and joint syndrome according to computed tomography scan and ultrasound. Variety of manifestations of immune disregulation in complex of symptoms of NFKB1 defect forces a neccessity of awareness of the specialists and requires a multidisciplinary approach to selection of an optimal tactic to patient treatment.