adairАллергология и Иммунология в ПедиатрииAllergology and Immunology in Paediatrics2500-11752712-7958Ассоциация детских аллергологов и иммунологов России10.53529/2500-1175-2024-1-27-35adair-129Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИMEDICAL CASESСиндром Якобсена: отчет о клиническом случаеJacobsen’s syndrome: case reporthttps://orcid.org/0000-0002-4069-0566БарычеваЛ. Ю.BarychevaL. Yu.

Людмила Юрьевна Барычева, д. м. н., профессор, заведующий кафедрой, врач аллерголог-иммунолог

кафедра иммунологии с курсом дополнительногопрофессионального образования

355017; ул. Мира, д. 310; 355029; ул. Семашко, д. 3; Ставрополь

Liudmila Yu. Barycheva, Dr. Sci. (Med.), Professor, Head of the Department, Allergist-Immunologist

Department of Immunology with a course of continuing professional education

355017; 310, Mira St.; 355029; 3, Semashko St.; Stavropol

for_ludmila@inbox.ruhttps://orcid.org/0009-0008-7785-4676БачиеваЛ. И.BachievaL. I.

Лейла Ибрагимовна Бачиева, ординатор 2-го года

кафедра факультетской педиатрии

355017; ул. Мира, д. 310; Ставрополь

Leila I. Bachieva, 2nd year resident

Department of Faculty Pediatrics

355017; 310, Mira St.; Stavropol

bachleila@mail.ruhttps://orcid.org/0000-0003-0971-5347КозьмоваН. А.Koz’movaN. A.

Наталья Александровна Козьмова, ассистент

кафедра иммунологии с курсом дополнительного профессионального образования

355017; ул. Мира, д. 310; Ставрополь

Natal’ja A. Koz’mova, assistant, Allergist-Immunologist

Department of Immunology with a course of continuing professional education

355017; 310, Mira St.; Stavropol

n-kozmova@mail.ruФГБОУ ВО «Ставропольский государственный медицинский университет»; ГБУЗ СК «Краевая детская клиническая больница»Stavropol State Medical University; Regional Children’s Clinical HospitalФГБОУ ВО «Ставропольский государственный медицинский университет»Stavropol State Medical University202405052024012735Copyright © Барычева Л.Ю., Бачиева Л.И., Козьмова Н.А., 20242024Барычева Л.Ю., Бачиева Л.И., Козьмова Н.А.Barycheva L.Y., Bachieva L.I., Koz’mova N.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://adair.elpub.ru/jour/article/view/129   Введение

   Введение. Синдром Якобсена (СЯ) — редкое генетическое заболевание, связанное с делецией хромосомы 11q, характеризующееся множественными пороками развития, гематологическими и иммунными расстройствами. Развитие иммунодефицита при СЯ часто является недооцененным, что приводит к рецидивирующим инфекционным осложнениям.

   Изложение клинического случая. В статье приведено клиническое наблюдение пациента с делецией хромосомы 11q и комбинированным иммунодефицитом. У нашего пациента отмечались рецидивирующие инфекции, цитопенический синдром, комбинированный иммунодефицит, а также другие клинические проявления синдрома Якобсена. Кроме снижения сывороточных иммуноглобулинов, установлен глубокий дефицит Т-клеточного звена иммунитета с низким содержанием Т-лимфоцитов — недавних эмигрантов из тимуса.

   Заключение

   Заключение. Особенностью представленного клинического случая является то, что при сравнительно небольшом объеме делеции 11q у ребенка реализовался полный клинический фенотип заболевания и глубокий комбинированный иммунодефицит. Статья написана для улучшения знаний врачей об этой редкой форме врожденного иммунодефицита.

   Introduction

   Introduction. Jacobsen syndrome (JS) is a rare genetic disease associated with the deletion of chromosome 11q, characterized by multiple malformations, hematological and immune disorders. The development of immunodeficiency in JS is often underestimated, which leads to recurrent infectious complications.

   Presentation of a clinical case. The article presents a clinical case of a patient with a deletion of chromosome 11q and combined immunodeficiency. Our patient had recurrent infections, cytopenic syndrome, combined immunodeficiency, as well as other clinical manifestations of Jacobsen syndrome. In addition to a decrease in serum immunoglobulins, a deep deficiency of the T-cell link of immunity with a low content of T-lymphocytes, recent emigrants from the thymus, has been established.

   Conclusions

   Conclusions. The peculiarity of the presented clinical case is that with a relatively small amount of deletion 11q, the child realized a complete clinical phenotype of the disease and a deep combined immunodeficiency. The article was written to improve doctors’ knowledge about this rare form of congenital immunodeficiency.

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