Primary Immunodeficiencies in Russia: Data From the National Registry

Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. The Russian PID registry was set up in 2017, by the...

Full description

Saved in:

Bibliographic Details
Published in:	Frontiers in immunology Vol. 11; p. 1491
Main Authors:	Mukhina, Anna A, Kuzmenko, Natalya B, Rodina, Yulia A, Kondratenko, Irina V, Bologov, Andrei A, Latysheva, Tatiana V, Prodeus, Andrei P, Pampura, Alexander N, Balashov, Dmitrii N, Ilyina, Natalya I, Latysheva, Elena A, Deordieva, Ekaterina A, Shvets, Oksana A, Deripapa, Elena V, Abramova, Irina N, Pashenko, Olga E, Vahlyarskaya, Svetlana S, Zinovyeva, Natalya V, Zimin, Sergei B, Skorobogatova, Elena V, Machneva, Elena B, Fomina, Daria S, Ipatova, Maria G, Barycheva, Ludmila Yu, Khachirova, Ludmila S, Tuzankina, Irina A, Bolkov, Michail A, Shakhova, Natalya V, Kamaltynova, Elena M, Sibgatullina, Farida I, Guseva, Marina N, Kuznetsova, Raisa N, Milichkina, Anzhelika M, Totolian, Areg A, Kalinina, Natalia M, Goltsman, Evgenia A, Sulima, Ekatherina I, Kutlyanceva, Anastasia Yu, Moiseeva, Anna A, Khoreva, Anna L, Nesterenko, Zoya, Tymofeeva, Elena V, Ermakova, A, Proligina, Dilyara D, Kalmetieva, Linara R, Davletbaieva, Gulshat A, Mirsayapova, Irina A, Richkova, Olga A, Kuzmicheva, Ksenia P, Grakhova, Maria A, Yudina, Natalya B, Orlova, Ekaterina A, Selezneva, Olga S, Piskunova, Svetlana G, Samofalova, Tatiana V, Bukina, Tatiana V, Pechkurova, Anna D, Migacheva, N, Zhestkov, A, Barmina, Elena V, Parfenova, Natalya A, Isakova, Svetlana N, Averina, Elena V, Sazonova, Irina V, Starikova, Svetlana Yu, Shilova, Tatiana V, Asekretova, Tatiana V, Suprun, Roman N, Kleshchenko, Elena I, Lebedev, Vladimir V, Demikhova, Elena V, Demikhov, Valerii G, Kalinkina, Veronica A, Gorenkova, Alla V, Duryagina, Svetlana N, Pavlova, Tatiana B, Shinkareva, Vera M, Smoleva, Irina V, Aleksandrova, Tatiana P, Bambaeva, Zema V, Philippova, Marina A, Gracheva, Elena M, Tcyvkina, Galina I, Efremenkov, Alexey V, Mashkovskaya, D, Yarovaya, Irina V, Alekseenko, Valentina A, Fisyun, Ivan V, Molokova, Galina V, Troitskya, Ekatherina V, Piatkina, Ludmila I, Vlasova, Elena V, Ukhanova, O, Chernishova, Ekaterina G, Vasilieva, M, Laba, Olga M, Volodina, E, Safonova, Ekaterina V, Voronin, Kirill A, Gurkina, Maria V
Format:	Journal Article
Language:	English
Published:	Switzerland Frontiers Media S.A 06-08-2020
Subjects:	Adult Child Databases, Factual Delayed Diagnosis epidemiology genetics Hematopoietic Stem Cell Transplantation HSCT Humans Immunoglobulins, Intravenous - therapeutic use Immunology IVIG Pathology, Molecular PID registry Prevalence primary immunodeficiency Primary Immunodeficiency Diseases - epidemiology Primary Immunodeficiency Diseases - therapy Registries Russia - epidemiology Russia primary immunodeficiency epidemiology IVIG genetics PID registry HSCT
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID). It is a secure, internet-based database that includes detailed clinical, laboratory, and therapeutic data on PID patients of all ages. The registry contained information on 2,728 patients (60% males, 40% females), from all Federal Districts of the Russian Federation. 1,851/2,728 (68%) were alive, 1,426/1,851 (77%) were children and 425/1,851 (23%) were adults. PID was diagnosed before the age of 18 in 2,192 patients (88%). Antibody defects (699; 26%) and syndromic PID (591; 22%) were the most common groups of PID. The minimum overall PID prevalence in the Russian population was 1.3:100,000 people; the estimated PID birth rate is 5.7 per 100,000 live births. The number of newly diagnosed patients per year increased dramatically, reaching the maximum of 331 patients in 2018. The overall mortality rate was 9.8%. Genetic testing has been performed in 1,740 patients and genetic defects were identified in 1,344 of them (77.2%). The median diagnostic delay was 2 years; this varied from 4 months to 11 years, depending on the PID category. The shortest time to diagnosis was noted in the combined PIDs-in WAS, DGS, and CGD. The longest delay was observed in AT, NBS, and in the most prevalent adult PID: HAE and CVID. Of the patients, 1,622 had symptomatic treatment information: 843 (52%) received IG treatment, mainly IVIG (96%), and 414 (25%) patients were treated with biological drugs. HSCT has been performed in 342/2,728 (16%) patients, of whom 67% are currently alive, 17% deceased, and 16% lost to follow-up. Three patients underwent gene therapy for WAS; all are currently alive. Here, we describe our first analysis of the epidemiological features of PID in Russia, allowing us to highlight the main challenges around PID diagnosis and treatment.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Reviewed by: Nizar Mahlaoui, Hôpital Necker-Enfants Malades, Assistance Publique Hopitaux De Paris, France; Saul Oswaldo Lugo Reyes, National Institute of Pediatrics (Mexico), Mexico Edited by: Malgorzata Pac, Children's Memorial Health Institute (IPCZD), Poland This article was submitted to Primary Immunodeficiencies, a section of the journal Frontiers in Immunology
ISSN:	1664-3224 1664-3224
DOI:	10.3389/fimmu.2020.01491