Terapevticheskii arkhivTerapevticheskii arkhivТерапевтический архив0040-36602309-5342LLC Obyedinennaya Redaktsiya30936Editorial articleПередовая статьяPrimary immunodeficiency in adults: total variable immune deficiency clinical manifestations, immunological and genetic defects, treatmentПервичные иммунодефициты у взрослых: общая вариабельная иммунная недостаточность клинические проявления, иммунологические и генетические дефекты, лечениеKaraulovAleksandr ViktorovichКарауловАлександр Викторович

д-р мед. наук, проф., чл.-кор. РАМН, зав. каф. клинической иммунологии и аллергологии ФППОВ, Первый МГМУ им. И. М. Сеченова, тел.: 8-499-782-30-74; Первый Московский государственный медицинский университет им. И. М. Сеченова

karaulov@mtu-net.ruSidorenkoIrina ValentinovnaСидоренкоИрина Валентиновна

канд. мед. наук, доц., каф. клинической иммунологии и аллергологии; Первый Московский государственный медицинский университет им. И. М. Сеченова

AndrosovVladimir VladimirovichАндросовВладимир Владимирович

канд. мед. наук, зав. иммунологическим отд-нием ГКБ № 7; Городская клиническая больница № 7

KapustinaAnna SergeevnaКапустинаАнна Сергеевна

аспирант, каф. клинической иммунологии и аллергологии; Первый Московский государственный медицинский университет им. И. М. Сеченова

KaraulovA V

I.M. Sechenov First Moscow State Medical University

SidorenkoI V

I.M. Sechenov First Moscow State Medical University

AndrosovV V

City hospital N 7, Moscow

KapustinaA S

I.M. Sechenov First Moscow State Medical University

Первый Московский государственный медицинский университет им. И. М. СеченоваГородская клиническая больница № 7I.M. Sechenov First Moscow State Medical UniversityCity hospital N 7, Moscow151020118310NO10 (2011)ТОМ 83, №10 (2011)495410042020Copyright ©; 2011, Consilium MedicumCopyright ©; 2011, ООО "Консилиум Медикум"2011Consilium MedicumООО "Консилиум Медикум"https://creativecommons.org/licenses/by-nc-sa/4.0https://ter-arkhiv.ru/0040-3660/article/view/30936

The most prevalent form of primary immunodeficiency with a total defect of antibody production in adults is common variable immunodeficiency (CVID). Compared to other forms of primary immunodeficiency, CVID is characterized by later onset of clinical manifestations represented by infectious, autoimmune and malignant diseases. To avoid development of complications and patient incapacitating, it is necessary to make an early diagnosis and initiate regular replacement therapy with intravenous immunoglobulins.

У взрослых наиболее часто встречающейся формой первичного иммунодефицита с тотальным дефектом продукции антител является общая вариабельная иммунная недостаточность (ОВИН). В отличие от других форм первичных иммунодефицитов ОВИН характеризуется более поздним началом клинических проявлений, представленных инфекционными, аутоиммунными и онкологическими заболеваниями. Во избежание формирования многочисленных осложнений и инвалидизации больных необходимы ранняя диагностика и назначение регулярной заместительной терапии препаратами иммуноглобулинов для внутривенного введения.

primary immunodeficiencycommon variable immunodeficiencyintravenous immunoglobulinsпервичный иммунодефицитобщая вариабельная иммунная недостаточностьиммуноглобулины для внутривенного введенияКондратенко И. В., Бологов А. А. Первичные иммунодефициты. М.: Медпрактика-М; 2005: 35-83.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: 190-197.Geha R. S., Notarangelo L. D., Casanova J. L. et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J. Allergy Clin. Immunol. 2007; 120: 776-794.Quinti I., Soresina A., Spadaro G. et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J. Clin. Immunol. 2007; 27: 308-316.Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies. Clin. Exp. Immunol. 1999; 118 (Suppl. 1): 1-28.Караулов A. B., Сидоренко И. В., Кондратенко И. В., Евсегнеева И. В. Диагностика, особенности клинических проявлений и лечения первичных иммунодефицитов. В кн.: Караулов А. В. (ред.) Успехи клинической иммунологии и аллергологии. М.; 2002; т. 3: 381-392.Сидоренко И. В., Гомес Л. А. Диагностика и лечение первичных иммунодефицитных состояний. Рос. ринол. 1999; 1: 38-41.Bergbreiter A., Salzer U. Common variable immunodeficiency: a multifaceted and puzzling disorder. Expert. Rev. Clin. lmmunol. 2009; 5(2): 167-180.Bonilla F. A., Bernstein I. L., Khan D. A. et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann. Allergy Asthma Immunol. 2005; 94 (Suppl. 1): 1-63.Boyle J. M., Buckley R. H. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J. Clin. Immunol. 2007; 27: 497-502.Cunningham-Rundles C., Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol. 1999; 92: 34-48.Oksenhendler E., Gérard L., Fieschi С. et al. Infections in 252 patients with common variable immunodeficiency. Clin. Infect. Dis. 2008; 46: 1547-1554.Orange J. S., Hossny E. M., Weiler C. R. et al. Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology. Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology. J. Allergy Clin. Immunol. 2006; 117: S525-S553.Ярцев M. H., Яковлева К. П. Первичные иммунодефицитные состояния. Качество жизни. Медицина 2005; 4: 66- 72.Detkovä D., Español Т. An update on treatment strategies for common variable immunodeficiency. Expert Rev Clin Immunol. 2009; 5(4): 381-390.Daniels J. A., Lederman H. M., Maitra A., Montgomery E. A. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am. J. Surg. Pathol. 2007; 31: 1800-1812.Michel M., Chanet V., Galicier L. et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004; 81: 254-263.Séve P., Bourdillon L., Sarrot-Reynauld F. et al. Autoimmune hemolytic anemia and common variable immunodeficiency: a case-control study of 18 patients. Medicine (Baltimore) 2008; 87: 177-184.Pan-Hammarström Q., Salzer U., Du L. et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat. Genet. 2007; 39: 429-430.Mellemkjaer L., Hammarstrom L., Andersen V. et al. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin. Exp. Immunol. 2002; 130: 495-500.Cunningham-Rundles C., Cooper D. L., Duffy T. P., Strauchen J. Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. Am. J. Hematol. 2002; 6: 171-178.Bates C. A., Ellison M. C., Lynch D. A. et al. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J. Allergy Clin. Immunol. 2004; 114: 415-421.Morimoto Y., Routes J. M. Granulomatous disease in common variable immunodeficiency. Curr. Allergy Asthma Rep. 2005; 5: 370-375.Berglund L. J., Wong S. W., Fulcher D. A. B-cell maturation defects in common variable immunodeficiency and association with clinical features. Pathology 2008; 40: 288-294.Cunningham-Rundles C., Radigan L. Deficient IL-12 and dendritic cell function in common variable immune deficiency. Clin. Immunol. 2005; 115: 147-153.Giovannetti A., Pierdominici M., Mazzetta F. et al. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J. Immunol. 2007; 178: 3932-3943.Chapel H., Lucas M., Lee M. et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008; 112: 277-286.Salzer U., Maul-Pavicic A., Cunningham-Rundles C. et al. ICOS deficiency in patients with common variable immunodeficiency. Clin. Immunol. 2004; 113: 234-240.Warnatz K., Salzer U., Gutenberger S. et al. Finally found: human BAFF-R deficiency causes hypogammaglobulinemia. Clin. Immunol. 2005; 115 (Suppl. 1): 820.Agematsu K., Futatani T., Hokibara S. et al. Absence of memory B cells in patients with common variable immunodeficiency. Clin. Immunol. 2002; 103: 34-42.Vogelzang A., McGuire H. M., Yu D. et al. A fundamental role for interleukin-21 in the generation of T follicular helper cells. Immunity 2008; 29: 127-137.Aspalter R. M., Eibl M. M., Wolf H. M. Defective T-cell activation caused by impairment of the TNF receptor 2 costimulatory pathway in common variable immunodeficiency. J. Allergy Clin. Immunol. 2007; 120: 1193-1200.Viallard J. F., Camou F., André M. et al. Altered dendritic cell distribution in patients with common variable immunodeficiency. Arthr. Res. Ther. 2005; 7: R1052-R1055.Yong P. F., Workman S., Wahid F. et al. Selective deficits in blood dendritic cell subsets in common variable immunodeficiency and X-linked agammaglobulinaemia but not specific polysaccharide antibody deficiency. Clin. Immunol. 2008; 127: 34-42.Finck A., van der Meer J. W., Schaffer A. A. et al. Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. Eur. J. Hum. Genet. 2006; 14: 867-875.Schaffer A. A., Pfannstiel J., Webster A. D. et al. Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q. Hum. Genet. 2006; 118: 725-729.Grimbacher B., Hutloff A., Schlesier M. et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol. 2003; 4: 261-268.Salzer U., Chapel H. M., Webster A. D. et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat. Genet. 2005; 37: 820-828.Smet J., van Zelm M., van der Burg M. et al. Hypogammaglobulinemia associated with a novel CD 19 mutation. Clin. Exp. Immunol. 2008; 154: 108.Sekine H., Ferreira R. C., Pan-Hammarström Q. et al. Role for Msh5 in the regulation of Ig class switch recombination. Proc. Natl Acad. Sci. USA 2007; 101: 7193-7198.Sakurai D., Kanno Y., Hase H. et al. TACI attenuates antibody production costimulated by BAFF-R and CD40. Eur. J. Immunol. 2007; 37: 110-118.Zhang L., Radigan L., Salzer U. et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunological outcomes in heterozygotes. J. Allergy Clin. Immunol. 2007; 120: 1178-1185.Sewell W. A., Buckland M., Jolles S. R. Therapeutic strategies in common variable immunodeficiency. Drugs 2003; 63: 1359-1371.