Email this article Clinical case of proteasome-associated autoinflammatory syndrome-2 (PRAAS2)
- Authors: Terentieva A.I.1, Viktorova E.A.1, Zaharova V.V.1, Konovalov D.V.1, Burlakov V.I.1, Rodina J.A.1, Kuzmenko N.B.1, Raikina E.V.1, Kozlova A.L.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 2 (2019)
- Pages: 108-113
- Section: ШКОЛА ИММУНОЛОГА
- Submitted: 29.06.2019
- Accepted: 29.06.2019
- Published: 29.06.2019
- URL: https://hemoncim.com/jour/article/view/251
- DOI: https://doi.org/10.24287/1726-1708-2019-18-2-108-113
- ID: 251
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Abstract
This article describes clinical case of a child with proteasome-associated autoinflammatory syndrome-2 (PRAAS2). First two cases in unrelated boys were described in July, 2018 by M. Cecilia Poli, Frederic Ebstein. We describe another case of PRAAS2. Mutations of the POMP-gene underlie PRAAS2 pathogenesis, causing defects of the POMP protein which plays important role in proteasomes maturation and leads to the clinical symptoms observed in three described cases. We also provide a short PRAAS2 background description, as well as key pathogenesis components, clinical findings description and analysis of three known PRAAS2 cases. Parents gave their consent to use personal data, including photos for clinical research and publications.
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About the authors
A. I. Terentieva
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian FederationRussian Federation
E. A. Viktorova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-2427-1417
Russian Federation
V. V. Zaharova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0001-5949-5317
Russian Federation
D. V. Konovalov
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian FederationRussian Federation
V. I. Burlakov
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0003-1267-9957
Russian Federation
J. A. Rodina
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0001-9857-4456
Russian Federation
N. B. Kuzmenko
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-1669-8621
Russian Federation
E. V. Raikina
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-7634-2053
Russian Federation
A. L. Kozlova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
Author for correspondence.
Email: annamax-99@mail.ru
ORCID iD: 0000-0002-2869-6535
Anna L. Kozlova, MD, PhD, Department of immunology.
117997, Moscow, Samory Mashela st., 1.
Russian FederationReferences
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