Chediak-Higashi syndrome (Review of literature and clinical case reports)

Yuliya A. Rodina; Родина Юлия Александровна; Victor E. Matveev; Матвеев Виктор Евгеньевич; Dmitry N. Balashov; Балашов Дмитрий Николаевич; Maria E. Dubrovina; Дубровина Мария Эдуардовна; Anna Yu. Shcherbina; Щербина Анна Юрьевна

doi:10.24287/1726-1708-2016-15-1-27-33

Chediak-Higashi syndrome (Review of literature and clinical case reports)

Authors: Rodina Y.A.¹, Matveev V.E.¹, Balashov D.N.¹, Dubrovina M.E.¹, Shcherbina A.Y.¹
Affiliations:
1. Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Issue: Vol 15, No 1 (2016)
Pages: 27-33
Section: ИММУНОЛОГИЯ
Submitted: 19.09.2018
Published: 19.03.2016
URL: https://hemoncim.com/jour/article/view/145
DOI: https://doi.org/10.24287/1726-1708-2016-15-1-27-33
ID: 145

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Abstract

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.

Keywords

дети, первичный иммунодефицит, синдром Чедиака-Хигаси, глазо-кожный альбинизм, гигантские пероксидазаположительные гранулы, первичный гемофагоцитарный лимфогистиоцитоз, трансплантация гемопоэтических стволовых клеток, режим кондиционирования со сниженной интенсивностью, children, primary immunodeficiency, Chediak-Higashi syndrome, oculocutaneous albinism, peroxidase-positive giant granules, primary hemophagocytic lymphohistiocytosis, hematopoietic stem cell transplantation, reduced intensity conditioning

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Chediak-Higashi syndrome (Review of literature and clinical case reports)

Full Text

Abstract

Keywords

About the authors

Yuliya A. Rodina

Victor E. Matveev

Dmitry N. Balashov

Maria E. Dubrovina

Anna Yu. Shcherbina

References

Supplementary files