Email this article Clericusio syndrome (poikiloderm with neutropenia)
- Authors: Deordieva E.A.1, Shvets О.A.1, Serova E.S.1, Pavlova A.V.1, Raykina Е.V.1, Plyasunova S.A.1, Mandzhieva A.I.1, Pshonkin A.V.1, Shcherbina A.Y.1
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Affiliations:
- Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
- Issue: Vol 18, No 3 (2019)
- Pages: 96-103
- Section: CLINICAL OBSERVATIONS
- Submitted: 13.09.2019
- Accepted: 13.09.2019
- Published: 13.09.2019
- URL: https://hemoncim.com/jour/article/view/266
- DOI: https://doi.org/10.24287/1726-1708-2019-18-3-96-103
- ID: 266
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Abstract
Clericusio syndrome is a rare genetic disease belonging to the group of congenital neutropenias, first described by S. Clericuzio et al. in 1991, in 14 patients from the Navajo tribe. It is characterized by poikiloderma and neutropenia, with recurrent infections and a high risk of developing myelodysplastic syndrome. Approaches to therapy are not optimized due to the rarity of this pathology. The article provides an overview of the data on the disease available to date, and discusses the case of Clericusio syndrome in a 5-year-old boy, from an early age observed in Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. Parents gave their permission for using personal data for clinical research and publications.
About the authors
E. A. Deordieva
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
Author for correspondence.
Email: deor2005@yandex.ru
ORCID iD: 0000-0002-8208-2075
Catherine A. Deordieva, MD, PhD, immunology department
117997, Moscow, Samory Mashela st., 1
Russian FederationО. A. Shvets
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0001-5347-7150
Moscow Russian Federation
E. S. Serova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-5333-6718
Moscow Russian Federation
A. V. Pavlova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-3974-5662
Moscow Russian Federation
Е. V. Raykina
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-7634-2053
Moscow Russian Federation
S. A. Plyasunova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian FederationMoscow Russian Federation
A. I. Mandzhieva
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0003-4039-430X
Moscow Russian Federation
A. V. Pshonkin
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-2057-2036
Moscow Russian Federation
A. Yu. Shcherbina
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-3113-4939
Moscow Russian Federation
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