Still’s disease in a patient with common variable immunodeficiency: NFKB1 defect
Болезнь Стилла у пациента с общей вариабельной иммунной недостаточностью — дефектом NFKB1
Roppelt А.А. Nikitaeva Е.А. Andrenova G.V. Markina U.A. Kruglova Т.S. Baryakh Е.А. Mutovina Z.Yu. Mudarisov R.R. Karaulov A.V. Lysenko M.A. Fomina D.S.
25 December 2025Pharmarus Print Media
Russian Journal of Allergy
2025#22Issue 4422 - 431 pp.
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.
case report , NFKB1 , olokizumab , Still’s disease
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Moscow City Clinical Hospital 52, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University (Sechenovskiy University), Moscow, Russian Federation
Central State Medical Academy, Moscow, Russian Federation
Life Improvement by Future Technologies (LIFT) Center, Moscow, Russian Federation
The Russian National Research Medical University named after N.I. Pirogov, Moscow, Russian Federation
Astana Medical University, Astana, Kazakhstan
Moscow City Clinical Hospital 52
I.M. Sechenov First Moscow State Medical University (Sechenovskiy University)
Central State Medical Academy
Life Improvement by Future Technologies (LIFT) Center
The Russian National Research Medical University named after N.I. Pirogov
Astana Medical University
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