Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children14510.24287/1726-1708-2016-15-1-27-33ИММУНОЛОГИЯChediak-Higashi syndrome (Review of literature and clinical case reports)Синдром Чедиака-Хигаси (обзор литературы и собственные клинические наблюдения)RodinaYuliya A.РодинаЮлия Александровна
Russian Federation
rodina.julija@rambler.ruMatveevVictor E.МатвеевВиктор Евгеньевич
Russian Federation
matveev-v.e@yandex.ruBalashovDmitry N.БалашовДмитрий Николаевич
Russian Federation
bala8@yandex.ruDubrovinaMaria E.ДубровинаМария Эдуардовна
Russian Federation
dubm@inbox.ruShcherbinaAnna Yu.ЩербинаАнна Юрьевна
Russian Federation
shcher26@hotmail.comFederal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry RogachevФедеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава России19032016151273319092018Copyright ©; 2016, «D. Rogachev NMRCPHOI»Copyright ©; 2016, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2016«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/145

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency, caused by mutation in LYST-CHS1 gene, encoding the respective protein regulating the lysosomal transport. The syndrome is characterized by early onset, specific clinical features and laboratory signs (oculocutaneous albinism, the presence of peroxidase-positive giant granules in granule containing cells), a high risk of hemophagocytic lymphohistiocytosis (accelerated phase), and is fatal in the majority of cases. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment. The best results of overall survival of CHS patients are attained if HSCT is carried out before the accelerated phase and with the use of reduced intensity conditioning. The authors present the experience gained in the diagnosis and treatment of three patients with CHS of different severity and with complications of the underlying disease. Two patients received HSCT with reduced intensity conditioning in accordance with the international recommendations. The results of catamnesis (duration of follow-up 4 months and 1 year) indicated complete hematological reconstitution.

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