Chediak–Higashi syndrome

Authors / Institutions

Yu.A.Rodina / Dmitri Rogachev Federal Scientific and Clinical Centre of Paediatric Haematology, Oncology and Immunology, Ministry of Health of the Russian Federation, Moscow, Russian Federation

V.E.Matveev / Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Moscow, Russian Federation

D.N.Balashov / Dmitry Rogachev Federal Research Center of Paediatric Haematology, Oncology, and Immunology, Moscow, Russian Federation

M.E.Dubrovina / Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Moscow, Russian Federation

A.Yu.Shcherbina / Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Moscow, Russian Federation

(Review of literature and clinical case reports)

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.

Key words: children, primary immunodeficiency, Chediak–Higashi syndrome, oculocutaneous albinism, peroxidase-positive giant granules, primary hemophagocytic lymphohistiocytosis, hematopoietic stem cell transplantation, reduced intensity conditioning.

For citation: Rodina Yu.A., Matveev V.E., Balashov D.N., Dubrovina M.E., Shcherbina A.Yu. Chediak–Higashi syndrome. Vopr. gematol./onkol. immunopatol. pediatr. (Pediatric Haematology/Oncology and Immunopathology). 2016; 15(1): 27–33.
DOI: 10.20953/1726-1708-2016-1-27-33
УДК 616-092:612.017.1]-008.64-036.1