Still's Disease in a Patient With Common Variable Immunodeficiency: Nfkb1 Defect

Сommon variable immunodeficiency (CVID) is the most prevalent form of inborn errors of immunity (IEIs), however, genetic cause may be identified in less than a third of cases. Pathogenic variants in the subunit 1 of nuclear factor kB (NFKB1) are thought to be one of the most frequent monogenic cause of CVID. 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 CVID 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 CT-scan and ultrasound.