perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2025-70-1-70-74perinatology-2142Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESРедкая форма иммунодефицитного состояния: синдром РойфманаA rare form of immunodeficiency condition: Roifman syndromehttps://orcid.org/0000-0002-0740-1718МизерницкийЮ. Л.MizernitskyYu. L.

Мизерницкий Юрий Леонидович - д.м.н., проф., зав. отделом хронических, воспалительных и аллергических болезней легких; проф. кафедры инновационной педиатрии и детской хирургии; засл. работник здравоохранения РФ

Москва

Moscow

https://orcid.org/0009-0007-5811-7710ПронькинаТ. Н.PronkinaT. N.

Пронькина Тамара Николаевна - мл. науч. сотр. отдела хронических, воспалительных и аллергических болезней легких

Москва

Moscow

https://orcid.org/0000-0003-1963-4313ЗоринаИ. Е.ZorinaI. E.

Зорина Ирина Евгеньевна - врач отделения пульмонологии

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0003-1267-9957БурлаковВ. И.BurlakovV. I.

Бурлаков Василий Игоревич — мл. науч. сотр. отдела оптимизации лечения иммунодефицитов, врач-иммунолог отделения иммунологии

Москва

Moscow

https://orcid.org/0000-0001-9857-4456РодинаЮ. А.RodinaYu. A.

Родина Юлия Александровна - к.м.н., зав. отделением иммунологии, ст. науч. сотр. отдела оптимизации лечения иммунодефицитов

Москва

Moscow

https://orcid.org/0000-0002-3113-4939ЩербинаА. Ю.ShcherbinA. Yu.

Щербина Анна Юрьевна - д.м.н., проф. РАН, зам. дир. Института гематологии, иммунологии и клеточных технологий

117198 Москва, ГСП-7, ул. Саморы Машела, д. 1

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» (Институт Вельтищева) ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityRussian FederationФГБУ «Национальный медицинский исследовательский центр Детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава РоссииРоссияD. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and ImmunologyRussian Federation2025060320257017074Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20252025Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/2142

Синдром Ройфмана — редкое наследственное заболевание, характеризующееся дефектом гуморального звена иммунитета, спондилоэпифизарной дисплазией, задержкой роста и интеллектуального развития, а также дистрофией сетчатки. Впервые синдром Ройфмана описан в 1999 г., а в 2015 г. определены патогенные мутации в гене RNU4ATAC, ассоциированные с синдромом Ройфмана, с синдромом Тайби–Линдера (TALS), или первичной остеодиспластической карликовостью с микроцефалией 1 типа (MOPD1), и синдромом Лоури–Вуда (LWS). Клинические проявления синдрома Ройфмана включают микроцефалию, узкую переносицу, задержку роста и иммунологические нарушения, приводящие к частым респираторным инфекциям и снижению качества жизни. Прогноз у детей с данным заболеванием более благоприятный, чем при других RNU4ATACопатиях, таких как MOPD1. В статье описан клинический случай, демонстрирующий многолетний диагностический путь к верификации диагноза и значение ранней диагностики редких форм иммунодефицитных состояний для повышения качества жизни детей. С раннего возраста у девочки наблюдались характерные клинические проявления в виде фенотипических особенностей и полиорганных жалоб. Ребенок длительное время наблюдался врачами-специалистами с диагнозами различных нозологических форм. Несмотря на лечение, положительного эффекта не отмечалось, и жалобы нарастали. Секвенирование полного экзома в 2017 г. не позволило верифицировать диагноз. Однако при расширенном генетическом обследовании и секвенировании полного генома через 5 лет, в 2022 г., синдром Рофмана был подтвержден. Появление ранее неописанных мутаций и расширение методов ДНК-диагностики позволило верифицировать диагноз и инициировать заместительную терапию с целью повышения качества жизни ребенка.

Roifman syndrome is a rare hereditary disease characterized by a defect in the humoral link of immunity, spondyloepiphyseal dysplasia, stunted growth and intellectual development, as well as retinal dystrophy. Roifman syndrome was first described in 1999, and in 2015 pathogenic mutations in the RNU4ATAC gene associated with Roifman syndrome, Taybi–Linder syndrome (TALS), or primary osteodysplastic dwarfism with type 1 microcephaly (MOPD1), and Lowry–Wood syndrome (LWS) were identified. Clinical manifestations of Roifman syndrome include microcephaly, a narrow nasal bridge, growth retardation and immunological disorders leading to frequent respiratory infections and a decrease in quality of life. The prognosis for children with this disease is more favorable compared to other RNU4ATAC-opathies, such as MOPD1. The article describes a clinical case demonstrating a long-term diagnostic path to diagnosis verification and the importance of early diagnosis of rare forms of immunodeficiency conditions in order to improve the quality of life of children. From an early age, the patient had characteristic clinical manifestations in the form of phenotypic features and multiple organ complaints. The child was observed for a long time by specialist doctors with various nosological forms. Despite treatment, no improvement was observed, and complaints increased. Sequencing of the complete exome in 2017 did not allow the diagnosis to be verified. However, during a more extensive genetic examination, sequencing of the complete genome in 5 years, in 2022, Roifman syndrome was confirmed. The appearance of previously undescribed mutations and the expansion of DNA diagnostic methods made it possible to verify the diagnosis and initiate substitution therapy in order to improve the quality of life.

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The authors declare that there are no conflicts of interest present.