AUTHOR=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. , Rumyantsev Alexander G. , Novichkova Galina A. , Shcherbina Anna Yu.
TITLE=Primary Immunodeficiencies in Russia: Data From the National Registry
JOURNAL=Frontiers in Immunology
VOLUME=11
YEAR=2020
URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2020.01491
DOI=10.3389/fimmu.2020.01491
ISSN=1664-3224
ABSTRACT=Introduction: 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.
Materials and Methods: 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.
Results: 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.
Conclusions: 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.