nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.17650/2311-1267-2016-3-1-52-58nodgo-189Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ/ОБЗОРЫ ЛИТЕРАТУРЫORIGINAL INVESTIGATIONS/LITERATURE REVIEWSМаски первичных иммунодефицитных состояний: проблемы диагностики и терапииMasks of primary immunodeficiency disorders: diagnostic and therapeutic problemsЩербинаА. Ю.ShcherbinaA. Yu.shcher26@hotmail.comФГБУ «ФНКЦ ДГОИ им. Дмитрия Рогачева» Минздрава России; Россия, 117997, Москва, ул. Саморы Машела, 1РоссияFederal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitriy Rogachev, Ministry of Health of Russia; 1 Samory Mashela St., Moscow, 117997, RussiaRussian Federation201617042016315258Copyright © Щербина А.Ю., 20162016Щербина А.Ю.Shcherbina A.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/189

Первичные иммунодефицитные состояния (ПИДС) представляют собой генетически обусловленные дефекты иммунной системы. Помимо рецидивирующих, тяжело протекающих инфекций к проявлениям ПИДС относятся состояния нарушения толерантности, хронического воспаления, аутоиммунные и опухолевые заболевания. Ранняя постановка диагноза и своевременная патогенетическая терапия позволяют вылечить многих больных с ПИДС, а в других случаях обеспечить им нормальное качество жизни. К основным патогенетическим методам лечения относятся трансплантация гемопоэтических стволовых клеток и заместительная терапия препаратами внутривенного иммуноглобулина (ВВИГ). Применение препаратов 10 % ВВИГ позволяет уменьшить временные и экономические затраты на терапию пациентов с ПИДС.

Primary immunedifficiencies (PID) are genetically driven defects of immune system. Apart of relapsing severe infections, PIDs characterized by immune tolerance disturbance, chronic inflammation, autoimmunity and high risk of malignant diseases. Early diagnosing and in-time pathogenic therapy allows treatment of the majority of patients with PIDs and providing normal quality of life in other cases provides. Main pathogenic methods of treatment are hematopoietic stem cell transplantation and intravenous immunoglobulins (IVIGs) substitutional therapy. Usage of 10 % IVIGs allows decreasing time and economical costs of PIDs therapy.

первичные иммунодефицитные состояниятрансплантация гемопоэтических стволовых клетоквнутривенный иммуноглобулинprimary immunodeficiency disordershematopoietic stem cell transplantationintravenous immunoglobulinReferencesBousfiha A., Jeddane L., Al-Herz W. et al. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 2015;35(8):727–38.Bousfiha A., Jeddane L., Al-Herz W. et al. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 2015;35(8):727–38.Иммунология детского возраста. Практическое руководство по детским болезням. Под ред. А.Ю. Щербины и Е.Д. Пашанова. М.: Медпрактика-М, 2006. [Childhood Immunology. A practical guide to children's illnesses. Ed.: A.Yu. Shcherbina, Ye.D. Pashanov. M.: Medpraktika-M, 2006. (In Russ.)].Иммунология детского возраста. Практическое руководство по детским болезням. Под ред. А.Ю. Щербины и Е.Д. Пашанова. М.: Медпрактика-М, 2006. [Childhood Immunology. A practical guide to children's illnesses. Ed.: A.Yu. Shcherbina, Ye.D. Pashanov. M.: Medpraktika-M, 2006. (In Russ.)].Кондратенко И.В., Бологов А.А. Первичные иммунодефициты. М.: Медпрактика-М, 2005. [Kondratenko I.V., Bologov A.A. Primary immunodeficiencies. M.: Medpraktika-M, 2005. (In Russ.)].Кондратенко И.В., Бологов А.А. Первичные иммунодефициты. М.: Медпрактика-М, 2005. [Kondratenko I.V., Bologov A.A. Primary immunodeficiencies. M.: Medpraktika-M, 2005. (In Russ.)].Boyle J.M., Buckley R.H. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007;27(5):497–502.Boyle J.M., Buckley R.H. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007;27(5):497–502.Carneiro-Sampaio M., Moraes-Vasconcelos D., Kokron C.M. et al. Primary immunodeficiency diseases in different age groups: a report on 1,008 cases from a single Brazilian reference center. J Clin Immunol 2013;33(4):716–24.Carneiro-Sampaio M., Moraes-Vasconcelos D., Kokron C.M. et al. Primary immunodeficiency diseases in different age groups: a report on 1,008 cases from a single Brazilian reference center. J Clin Immunol 2013;33(4):716–24.Lucas C.L., Kuehn H.S., Zhao F. et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol 2014;15(1):88–97.Lucas C.L., Kuehn H.S., Zhao F. et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol 2014;15(1):88–97.Lucas C.L., Zhang Y., Venida A. et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J Exp Med 2014;211(13):2537–47.Lucas C.L., Zhang Y., Venida A. et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J Exp Med 2014;211(13):2537–47.Joshi A.Y., Iyer V.N., Hagan J.B. et al. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc 2009;84(1):16–22.Joshi A.Y., Iyer V.N., Hagan J.B. et al. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc 2009;84(1):16–22.Conley M.E., Notarangelo L.D., Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999;93:190–7.Conley M.E., Notarangelo L.D., Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999;93:190–7.Canioni D., Jabado N., MacIntyre E. et al. Lymphoproliferative disorders in children with primary immunodeficiencies: immunological status may be more predictive of the outcome than other criteria. Histopathology 2001;38:146–59.Canioni D., Jabado N., MacIntyre E. et al. Lymphoproliferative disorders in children with primary immunodeficiencies: immunological status may be more predictive of the outcome than other criteria. Histopathology 2001;38:146–59.Folds J.D., Schmitz J.L. Clinical and laboratory assessment of immunity. J Allergy Clin Immunol 2004;111(Suppl. 2):S702–11.Folds J.D., Schmitz J.L. Clinical and laboratory assessment of immunity. J Allergy Clin Immunol 2004;111(Suppl. 2):S702–11.Balashov D., Shcherbina A., Maschan M. et al. Single-Center Experience of Unrelated and Haploidentical Stem Cell Transplantation with TCRαβ and CD19 Depletion in Children with Primary Immunodeficiency Syndromes. Biol Blood Marrow Transplant 2015;21(11):1955–62.Balashov D., Shcherbina A., Maschan M. et al. Single-Center Experience of Unrelated and Haploidentical Stem Cell Transplantation with TCRαβ and CD19 Depletion in Children with Primary Immunodeficiency Syndromes. Biol Blood Marrow Transplant 2015;21(11):1955–62.Fischer A., Hacein-Bey Abina S., Touzot F., Cavazzana M. Gene therapy for primary immunodeficiencies. Clin Genet 2015;88(6):507–15.Fischer A., Hacein-Bey Abina S., Touzot F., Cavazzana M. Gene therapy for primary immunodeficiencies. Clin Genet 2015;88(6):507–15.Orange J.S., Grossman W.J., Navickis R.J., Wilkes M.M. Impact of trough IgG on pneumonia incidence in primary immunodeficiency: A meta-analysis of clinical studies. Clin Immunol 2010;137(1):21–30.Orange J.S., Grossman W.J., Navickis R.J., Wilkes M.M. Impact of trough IgG on pneumonia incidence in primary immunodeficiency: A meta-analysis of clinical studies. Clin Immunol 2010;137(1):21–30.Щербина А.Ю., Косачева Т.Г., Румянцев А.Г. Первичные иммунодефицитные состояния: вопросы диагностики и лечения. Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2010;9(2):23–31. [Shcherbina A.Yu., Kosacheva T.G., Rumyantsev A.G. Primary immunodeficiency: diagnostic issues and treatment. Voprosy gematologii/onkologii i immunopatologii v pediatrii = Pediatric Hematology/Oncology and Immunopathology 2010;9(2):23–31. (In Russ.)].Щербина А.Ю., Косачева Т.Г., Румянцев А.Г. Первичные иммунодефицитные состояния: вопросы диагностики и лечения. Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2010;9(2):23–31. [Shcherbina A.Yu., Kosacheva T.G., Rumyantsev A.G. Primary immunodeficiency: diagnostic issues and treatment. Voprosy gematologii/onkologii i immunopatologii v pediatrii = Pediatric Hematology/Oncology and Immunopathology 2010;9(2):23–31. (In Russ.)].Kumar А., Teuber S.S., Gershwin M.E. Intravenous immunoglobulin: striving for appropriate use. Int Arch Allergy Immunol 2006;140(3):185–98.Kumar А., Teuber S.S., Gershwin M.E. Intravenous immunoglobulin: striving for appropriate use. Int Arch Allergy Immunol 2006;140(3):185–98.Chérin P., Cabane J. Relevant criteria for selecting an intravenous immunoglobulin preparation for clinical use. Bio Drugs 2010;24(4):211–23.Chérin P., Cabane J. Relevant criteria for selecting an intravenous immunoglobulin preparation for clinical use. Bio Drugs 2010;24(4):211–23.Смирнова И.Н., Косачева Т.Г., Швец О.В. и др. Использование препарата 10 % иммуноглобулина для внутривенного введения Гамуекс в лечении больных с первичными иммунодефицитами: собственный опыт и обзор литературы. Российский аллергологический журнал 2014;6:76–81. [Smirnova I.N., Kosacheva T.G., Shvets O.V. et al. 10 % intravenous immunoglobulin Gamunex in the treatment of primary immunodeficiencies patients: own experience and literature review. Rossiyskiy allergologicheskiy zhurnal = Russian Allergology Journal 2014;6:76–81. (In Russ.)].Смирнова И.Н., Косачева Т.Г., Швец О.В. и др. Использование препарата 10 % иммуноглобулина для внутривенного введения Гамуекс в лечении больных с первичными иммунодефицитами: собственный опыт и обзор литературы. Российский аллергологический журнал 2014;6:76–81. [Smirnova I.N., Kosacheva T.G., Shvets O.V. et al. 10 % intravenous immunoglobulin Gamunex in the treatment of primary immunodeficiencies patients: own experience and literature review. Rossiyskiy allergologicheskiy zhurnal = Russian Allergology Journal 2014;6:76–81. (In Russ.)].Lozano-Blasco J., Martín-Mateos M.A., Alsina L. et al. A 10 % liquid immunoglobulin preparation for intravenous use (Privigen®) in paediatric patients with primary immunodeficiencies and hypersensitivity to IVIG. Allergol Immunopathol (Madr) 2014;42(2):136–41.Lozano-Blasco J., Martín-Mateos M.A., Alsina L. et al. A 10 % liquid immunoglobulin preparation for intravenous use (Privigen®) in paediatric patients with primary immunodeficiencies and hypersensitivity to IVIG. Allergol Immunopathol (Madr) 2014;42(2):136–41.Champi C. Primary immunodeficiency disorders in children: prompt diagnosis can lead to lifesaving treatment. J Pediatr Health Care 2002;16(1):16–21.Champi C. Primary immunodeficiency disorders in children: prompt diagnosis can lead to lifesaving treatment. J Pediatr Health Care 2002;16(1):16–21.

The authors declare that there are no conflicts of interest present.