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STILL'S DISEASE IN A PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY: NFKB1 DEFECT
- Authors: Roppelt A.1, Nikitaeva Е.2, Andrenova G.1, Markina U.1, Kruglova T.1, Baryah E.3, Mutovina Z.4, Mudarisov R.3, Karaulov A.5, Lysenko M.6, Fomina D.7
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Affiliations:
- Moscow Research and Practical Center of Allergy and Immunology, MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia
- First Sechenov Moscow State Medical University (Sechenov University), Moscow, Russia
- MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia
- MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia Central State Medical Academy of the office of the President of the Russian Federation, Moscow, Russian Federation
- First Sechenov Moscow State Medical University (Sechenov University), Moscow, Russia Life Improvement by Future Technologies (LIFT) Center, Moscow, Russia.
- MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia Pirogov Russian National Research Medical University, Moscow, Russia
- Moscow Research and Practical Center of Allergy and Immunology, MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia First Sechenov Moscow State Medical University (Sechenov University), Moscow, Russia Astana Medical University, Astana, Kazakhstan
- Section: Case reports
- Submitted: 02.07.2025
- Accepted: 25.08.2025
- Published: 27.08.2025
- URL: https://rusalljournal.ru/raj/article/view/17035
- DOI: https://doi.org/10.36691/RJA17035
- ID: 17035
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Abstract
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.
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About the authors
Anna Roppelt
Moscow Research and Practical Center of Allergy and Immunology, MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia
Author for correspondence.
Email: roppelt_anna@mail.ru
ORCID iD: 0000-0001-5132-1267
SPIN-code: 7249-4423
Россия
Еkaterina Nikitaeva
First Sechenov Moscow State Medical University (Sechenov University), Moscow, Russia
Email: katenikitaev@gmail.com
ORCID iD: 0009-0005-3090-8487
Gerelma Andrenova
Moscow Research and Practical Center of Allergy and Immunology, MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia
Email: andrenovagv@gmail.com
ORCID iD: 0000-0001-7053-3900
SPIN-code: 2891-1650
Ulyana Markina
Moscow Research and Practical Center of Allergy and Immunology, MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia
Email: itcher.md@bk.ru
ORCID iD: 0000-0002-6646-4233
SPIN-code: 6424-0012
Tatyana Kruglova
Moscow Research and Practical Center of Allergy and Immunology, MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia
Email: surckova.t@yandex.ru
ORCID iD: 0000-0002-4949-9178
SPIN-code: 2884-5000
Elena Baryah
MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia
Email: ebaryakh@gmail.com
ORCID iD: 0000-0001-6880-9269
SPIN-code: 5280-7513
Zinaida Mutovina
MCRC Hospital 52 Ministry of Healthcare of Moscow, RussiaCentral State Medical Academy of the office of the President of the Russian Federation, Moscow, Russian Federation
Email: zmutovina@mail.ru
ORCID iD: 0000-0001-5809-6015
SPIN-code: 3943-7930
Rinat Mudarisov
MCRC Hospital 52 Ministry of Healthcare of Moscow, Russia
Email: MudarisovRR1@zdrav.mos.ru
ORCID iD: 0000-0001-8890-4669
SPIN-code: 4550-8145
Alexander Karaulov
First Sechenov Moscow State Medical University (Sechenov University), Moscow, RussiaLife Improvement by Future Technologies (LIFT) Center, Moscow, Russia.
Email: drkaraulov@mail.ru
ORCID iD: 0000-0002-1930-5424
SPIN-code: 4122-5565
Maryana Lysenko
MCRC Hospital 52 Ministry of Healthcare of Moscow, RussiaPirogov Russian National Research Medical University, Moscow, Russia
Email: gkb52@zdrav.mos.ru
ORCID iD: 0000-0001-6010-7975
SPIN-code: 3887-6250
Daria Fomina
Moscow Research and Practical Center of Allergy and Immunology, MCRC Hospital 52 Ministry of Healthcare of Moscow, RussiaFirst Sechenov Moscow State Medical University (Sechenov University), Moscow, Russia
Astana Medical University, Astana, Kazakhstan
Email: daria_fomina@mail.ru
ORCID iD: 0000-0002-5083-6637
SPIN-code: 3023-4538
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