mimmunМедицинская иммунологияMedical Immunology (Russia)1563-06252313-741XSPb RAACI10.15789/1563-0625-2017-1-95-100mimmun-1170Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCLINICAL CASESСЕМЕЙНЫЙ СЛУЧАЙ СИНДРОМА ДИ ДЖОРДЖИ (СИНДРОМА ДЕЛЕЦИИ 22q11.2)FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROMEТузанкинаИ. А.TuzankinaI. A.

ведущий научный сотрудник кафедры иммунохимии;

д.м.н., профессор, главный детский иммунолог Минздрава Свердловской области, главный научный сотрудник лаборатории иммунологии воспаления, 620049, г. Екатеринбург, ул. Первомайская, 106;

врач аллерголог-иммунолог научного отдела

Leading Research Associate, Department of Immunochemistry;

PhD, MD (Medicine), Professor, Сhief Pediatric Immunologist at the Ministry of Health of Sverdlovsk Region, Main Research Associate, Laboratory of Inflammation Immunology, 620049, Yekaterinbourg, Pervomayskaya str., 106;

Clinical Allergologist, Research Department

ituzan@yandex.ruДерябинаС. С.DeryabinaS. S.

научный сотрудник кафедры иммунохимии Химико-технологического института;

младший научный сотрудник лаборатории иммунологии воспаления 

Junior Research Associate, Laboratory of Inflammation Immunology, Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences,

Yekaterinbourg

ВласоваЕ. В.VlasovaE. V.

к.м.н., заведующая отделением клинической иммунологии ГБУЗ СО Областная детская клиническая больница № 1,

г. Екатеринбург

PhD (Medicine), Chief, Department of Clinical Immunology, Regional Pediatric Clinical Hospital No. 1,

Yekaterinbourg

БолковМ. А.BolkovM. A.

старший научный сотрудник кафедры иммунохимии Химико-технологического института;

к.м.н., научный сотрудник лаборатории иммунологии воспаления, 

г. Екатеринбург

Senior Research Associate, Department of Immunochemistry;

PhD (Medicine), Research Associate, Laboratory of Inflammation Immunology;

Yekaterinbourg

ФГАОУ ВПО «Уральский федеральный университет имени первого Президента России Б.Н. Ельцина»; ФГБУН «Институт иммунологии и физиологии» Уральского отделения РАН; ГБУЗ СО Областная детская клиническая больница № 1РоссияB. Yeltsin Ural Federal University; Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; Regional Pediatric Clinical Hospital No. 1Russian FederationФГАОУ ВПО «Уральский федеральный университет имени первого Президента России Б.Н. Ельцина»; ФГБУН «Институт иммунологии и физиологии» Уральского отделения РАНРоссияB. Yeltsin Ural Federal University; Institute of Immunology and Physiology, Ural Branch, Russian Academy of SciencesRussian FederationФГБУН «Институт иммунологии и физиологии» Уральского отделения РАН; ГБУЗ СО Областная детская клиническая больница № 1РоссияInstitute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; Regional Pediatric Clinical Hospital No. 1Russian Federation20172401201719195100Copyright © Тузанкина И.А., Дерябина С.С., Власова Е.В., Болков М.А., 20172017Тузанкина И.А., Дерябина С.С., Власова Е.В., Болков М.А.Tuzankina I.A., Deryabina S.S., Vlasova E.V., Bolkov M.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.mimmun.ru/mimmun/article/view/1170

Мотивацией исследования послужила уникальная ситуация, когда в одной семье было выявлено три случая синдрома Ди Джорджи, в том числе был обнаружен генетический дефект у матери, у которой фенотипических проявлений синдрома делеции 22 хромосомы ранее выявлено не было. Целью исследования стал анализ фенотипических манифестаций у членов этой семьи с синдромом делеции 22q11.2. Был проведен клинический анализ болезни, анамнеза жизни и генеалогии, были проведены общие клинические и биохимические исследования, сделаны иммунограммы, УЗИ тимуса, щитовидной железы, сердца и органов брюшной полости. Выявлено, что клинические проявления у всех трех человек из семьи различны при одном и том же генетическом дефекте.

The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype. Hence, this interesting case of 22q11.2 deletion syndrome exists in 2 generations of the same family. The aim of this study was analysis of phenotypic manifestations in the family members with 22q11.2 deletion syndrome. Clinical examination of the patients, their life story and pedigree and, along with routine clinical and biochemical analysis, and immune state testing, along with ultrasound imaging of thymus and thyroid glands, heart and abdominal cavity. We made conclusions that the phenotypic features associated with chromosome 22q11.2 deletion may be different for distinct family members. Further studies are required to determine length of deleted segment and the genes affected, as well as to establish the genotype-phenotype interactions and disease prognosis.

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