Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children39110.24287/1726-1708-2020-19-3-114-120ШКОЛА ИММУНОЛОГАA rare case of combined immunodeficiency due to a deletion of 11(q) – Jacobsen syndromeРедкий случай комбинированного иммунодефицита с делецией длинного плеча хромосомы 11(q) – синдром Якобсенаhttps://orcid.org/0000-0002-1669-8621KuzmenkoN. B.КузьменкоН. Б.
Russian Federation

MD, PhD, the Head of the Department of Epidemiology and Monitoring of Immunodeficiencies, 

117997, Moscow, Samory Mashela st., 1

канд. мед. наук, заведующая отделом эпидемиологии и мониторинга иммунодефицитов, врач-аллерголог-иммунолог консультативного отделения,

117997, Москва, ул. Саморы Машела, 1 

plunge@list.ruhttps://orcid.org/0000-0001-5347-7150ShvetsO. A.ШвецО. А.
Russian Federation

117997, Moscow, Samory Mashela st., 1

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0002-3305-1694MukhinaA. A.МухинаА. А.
Russian Federation

117997, Moscow, Samory Mashela st., 1

117997, Москва, ул. Саморы Машела, 1

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России080920201931141200610202006102020Copyright ©; 2025, «D. Rogachev NMRCPHOI»Copyright ©; 2025, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2025«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/391

Jacobsen syndrome (JS) is a rare combined immunodeficiency caused by partial deletion of the long arm of chromosome 11. Clinical features include physical growth retardation, psychomotor retardation, characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small low set ears). Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Abnormal platelet function and immunological problems are usually present. Here we describe a patient with deletion of 11(q) chromosome resulting in clinical phenotype of the facial dysmorphisms, congenital malformations, neurological symptoms, as well as clinical and laboratory features of immunodeficiency. Features of immune dysregulation in a patient with JS are clearly characterized. Patient's parents agreed to use personal dats and photos in research and publications.

Синдром Якобсена (СЯ) – редкий комбинированный иммунодефицит, связанный с частичной делецией длинного плеча 11-й хромосомы. Клинические проявления данного заболевания включают задержку физического и умственного развития, дисморфизм лица (деформации черепа, гипертелоризм, птоз, колобому, эпикантальные складки, широкую переносицу, маленький нос, V-образный рот, маленькие низко посаженные уши), пороки развития сердца, почек, желудочнокишечного тракта, гениталий, центральной нервной системы и скелета, а также нарушение функции тромбоцитов, гуморального и клеточного звеньев иммунной системы. В статье приведено клиническое наблюдение пациентки с СЯ с делецией хромосомы 11(q) и клиническим фенотипом, включающим дисморфизмы лица, врожденные пороки развития, неврологическую симптоматику, а также клинические и лабораторные проявления иммунодефицита, четко охарактеризованы проявления дисрегуляции. Родители пациентки дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.

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