Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children1210.24287/1726-1708-2017-16-4-75-83СтатьиKabuki syndromeСиндром Кабукиhttps://orcid.org/0000-0003-4834-4075KondratenkoI. V.КондратенкоИ.В.
Russian Federation
https://orcid.org/0000-0001-9764-2090SuspitsinE. N.СуспицынЕ.Н.
Russian Federation

Saint-Peterburg

https://orcid.org/0000-0003-0575-2028VakhlyarskayaS. S.ВахлярскаяС.С.
Russian Federation

MD, pediatrician immunologist

Russia, 119571, Moscow, Leninskii prospect, 117+7 (495) 935-6412

vahlyarskaya@mail.ruhttps://orcid.org/0000-0002-0265-5778BologovA. A.БологовА.А.
Russian Federation
https://orcid.org/0000-0003-4529-7891ImyanitovE. N.ИмянитовЕ.Н.
Russian Federation
Russian Children’s Clinical Hospital Pirogov Russian National Research Medical University, MoscowФГБУ «Российская детская клиническая больница» Минздрава РоссииФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава РоссииPetrov National Medical Research Center of Oncology Saint-Petersburg State Pediatric Medical UniversityФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Петрова» Минздрава РоссииRussian Children’s Clinical HospitalФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииRussian Children’s Clinical Hospital Pirogov Russian National Research Medical UniversityФГБУ «Российская детская клиническая больница» Минздрава РоссииRussian Children’s Clinical HospitalФГБУ «Российская детская клиническая больница» Минздрава РоссииФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава РоссииФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Петрова» Минздрава РоссииФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава России09112017164758309082018Copyright ©; 2017, «D. Rogachev NMRCPHOI»Copyright ©; 2017, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2017«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/12

Kabuki syndrome (KS) is a rare inherited disease that consists of a specific morphological changes in the face, short stature, various organ malformations, variable degree of intellectual disability. Mutations in KMT2D gene have been identified as the main cause for KS type 1 (KS type 1 about 70% of patients), whereas mutations in KDM6A gene causes KS type 2 are a much less frequent (less than 5% of patients). Most mutations of KMT2D are private de novo mutations; familial occurrence with an autosomal dominant pattern has also been reported. KS type 2 (caused by mutations in a second gene, KDM6A) has X-linked inheritance. Both genes functioning as epigenetic modulators through histone modifications in the course of embryogenesis and in several biological processes. Different human disorders are caused by mutations of genes involved in the epigenetic regulation, all these share developmental defects, disturbed growth, multiple congenital organ malformations, and also hematological and immunological defects. In particular, most KS patients show increased susceptibility to infections and have reduced serum immunoglobulin levels, while some suffer also from autoimmune manifestations, such as idiopathic thrombocytopenic purpura, hemolytic anemia and other. This article provides a review of the literature and a description of the case report of a patient with genetically confirmed KS type 2, with characteristic phenotypic manifestations, congenital malformations, immunodeficiency and autoimmune cytopenias.

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