Документ применяется с 1 января 2023 года.

Список литературы

1. Gupta A. Primary Immunodeficiency Disorders: Where Do We Stand? // Indian J. Pediatr. 2019. Т. 86, N 10. С. 873 - 874.

2. Hartono S. и др. Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases // Clin. Rev. Allergy Immunol. 2019. Т. 57, N 2. С. 145 - 165.

3. Bonilla F.A. и др. Practice parameter for the diagnosis and management of primary immunodeficiency // J. Allergy Clin. Immunol. 2015. Т. 136, N 5. С. 1186 - 1205.

4. Rezaei N. и др. An Introduction to Primary Immunodeficiency Diseases // Primary Immunodeficiency Diseases. Berlin, Heidelberg: Springer Berlin Heidelberg, 2008. С. 1 - 38.

5. Tangye S.G. и др. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee // J. Clin. Immunol. 2020.

6. Aghamohammadi A. и др. Predominantly Antibody Deficiencies // Primary Immunodeficiency Diseases. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. С. 183 - 244.

7. Fried A.J., Bonilla F.A. Pathogenesis, Diagnosis, and Management of Primary Antibody Deficiencies and Infections // Clin. Microbiol. Rev. 2009. Т. 22, N 3. С. 396 - 414.

8. Латышева Е.А. Первичные иммунодефициты у взрослых. Преимущественное нарушение синтеза антител // Терапия. 2018. N 7 - 8 (25 - 26). С. 119 - 124.

9. van der Burg M. и др. New frontiers of primary antibody deficiencies // Cell. Mol. Life Sci. 2012. Т. 69, N 1. С. 59 - 73.

10. Picard C. и др. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity // J. Clin. Immunol. 2018. Т. 38, N 1. С. 96 - 128.

11. Bogaert D.J.A. и др. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? // J. Med. Genet. 2016. Т. 53, N 9. С. 575 - 590.

12. Bonilla F.A. и др. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders // J. Allergy Clin. Immunol. Pract. 2016. Т. 4, N 1. С. 38 - 59.

13. Abbott J.K., Gelfand E.W. Common Variable Immunodeficiency // Immunol. Allergy Clin. North Am. 2015. Т. 35, N 4. С. 637 - 658.

14. Javier F.C., Moore C.M., Sorensen R.U. Distribution of primary immunodeficiency diseases diagnosed in a pediatric tertiary hospital // Ann. Allergy, Asthma Immunol. 2000. Т. 84, N 1. С. 25 - 30.

15. Щербина А.Ю., Кузьменко Н.Б. Классификация первичных иммунодефицитов как отражение современных представлений об их патогенезе и терапевтических подходах. 2017. N 3. С. 51 - 57.

16. World Health Organization. International statistical classification of diseases and related health problems. - 10th revision, volume 1 tabilar list, Fifth edition, 2016. 2016. 242 - 244 с.

17. Bierry G. и др. Thoracic Manifestations of Primary Humoral Immunodeficiency: A Comprehensive Review // RadioGraphics. 2009. Т. 29, N 7. С. 1909 - 1920.

18. Hampson F.A. и др. Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders // Clin. Radiol. 2012. Т. 67, N 6. С. 587 - 595.

19. Латышева Т.В. и др. Пульмунологические проявления у взрослых пациентов с дефектом гуморального звена иммунитета // Терапевтический архив. 2016. N 8. С. 127 - 134.

20. Suri D., Rawat A., Singh S. X-linked Agammaglobulinemia // Indian J. Pediatr. 2016. Т. 83, N 4. С. 331 - 337.

21. Abolhassani H. и др. A review on guidelines for management and treatment of common variable immunodeficiency // Expert Rev. Clin. Immunol. 2013. Т. 9, N 6. С. 561 - 575.

22. Chapel H. и др. Common variable immunodeficiency disorders: division into distinct clinical phenotypes // Blood. 2008. Т. 112, N 2. С. 277 - 286.

23. Popa V., Colby T.V., Reich S.B. Pulmonary Interstitial Disease in Ig Deficiency // Chest. 2002. Т. 122, N 5. С. 1594 - 1603.

24. Jesenak M. и др. Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children // Front. Pediatr. 2014. Т. 2.

25. Verbsky J., Routes J. Sarcoidosis and Common Variable Immunodeficiency: Similarities and Differences // Semin. Respir. Crit. Care Med. 2014. Т. 35, N 03. С. 330 - 335.

26. Uzzan M. и др. Gastrointestinal Disorders Associated with Common Variable Immune Deficiency (CVID) and Chronic Granulomatous Disease (CGD) // Curr. Gastroenterol. Rep. 2016. Т. 18, N 4. С. 17.

27. Khokar A., Gupta S. Clinical and Immunological Features of 78 Adult Patients with Primary Selective IgG Subclass Deficiencies // Arch. Immunol. Ther. Exp. (Warsz). 2019. Т. 67, N 5. С. 325 - 334.

28. ESID diagnostic criteria for PID [Электронный ресурс]. URL: https://esid.org/layout/set/print/content/view/full/12919#Q7.

29. Seidel M.G. и др. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity // J. Allergy Clin. Immunol. Pract. 2019. Т. 7, N 6. С. 1763 - 1770.

30. ESID Registry - Working Definitions for Clinical Diagnosis of PID. 2019.

31. Patel S.Y., Carbone J., Jolles S. The Expanding Field of Secondary Antibody Deficiency: Causes, Diagnosis, and Management // Front. Immunol. 2019. Т. 10.

32. Chen X.-F. и др. Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia // Medicine (Baltimore). 2016. Т. 95, N 32. С. e4544.

33. Sanges S. и др. Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection // Clin. Microbiol. Infect. 2017. Т. 23, N 8. С. 576.e1 - 576.e5.

34. Jolles S. The Variable in Common Variable Immunodeficiency: A Disease of Complex Phenotypes // J. Allergy Clin. Immunol. Pract. 2013. Т. 1, N 6. С. 545 - 556.

35. Gupta S., Pattanaik D., Krishnaswamy G. Common Variable Immune Deficiency and Associated Complications // Chest. 2019. Т. 156, N 3. С. 579 - 593.

36. McCullagh B.N. и др. Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD) // PLoS One / под ред. Kostikas K. 2017. Т. 12, N 2. С. e0172437.

37. McCusker C., Upton J., Warrington R. Primary immunodeficiency // Allergy, Asthma Clin. Immunol. 2018. Т. 14, N S2. С. 61.

38. Orange J.S. и др. Use and interpretation of diagnostic vaccination in primary immunodeficiency: A working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology // J. Allergy Clin. Immunol. 2012. Т. 130, N 3. С. S1 - S24.

39. Saha B.K. и др. Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. // Mol. Med. 1997. Т. 3, N 7. С. 477 - 485.

40. Yel L. и др. Mutations in the Mu Heavy-Chain Gene in Patients with Agammaglobulinemia // N. Engl. J. Med. 1996. Т. 335, N 20. С. 1486 - 1493.

41. Ferrari S. и др. Mutations of the 00000001.wmz gene cause agammaglobulinemia in man // J. Exp. Med. 2007. Т. 204, N 9. С. 2047 - 2051.

42. Minegishi Y. и др. Mutations in 00000002.wmz (CD79a) result in a complete block in B-cell development // J. Clin. Invest. 1999. Т. 104, N 8. С. 1115 - 1121.

43. Minegishi Y. An Essential Role for BLNK in Human B Cell Development // Science (80-.). 1999. Т. 286, N 5446. С. 1954 - 1957.

44. Minegishi Y. и др. Mutations in the Human 00000003.wmz5/14.1 Gene Result in B Cell Deficiency and Agammaglobulinemia // J. Exp. Med. 1998. Т. 187, N 1. С. 71 - 77.

45. Tang P. и др. Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1 // J. Clin. Immunol. 2018. Т. 38, N 1. С. 88 - 95.

46. Boisson B. и др. A recurrent dominant negative E47 mutation causes agammaglobulinemia and 00000004.wmz B cells // J. Clin. Invest. 2013. Т. 123, N 11. С. 4781 - 4785.

47. Stoddard J.L. и др. Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs // Front. Immunol. 2014. Т. 5.

48. Al-Mousa H. и др. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases // J. Allergy Clin. Immunol. 2016. Т. 137, N 6. С. 1780 - 1787.

49. Cunningham-Rundles C. How I treat common variable immune deficiency // Blood. 2010. Т. 116, N 1. С. 7 - 15.

50. O'Keefe A. и др. Primary immunodeficiency for the primary care provider // Paediatr. Child Health. 2016. Т. 21, N 2. С. e10 - e14.

51. Mohammadinejad P. и др. Antibiotic resistance in patients with primary immunodeficiency disorders versus immunocompetent patients // Expert Rev. Clin. Immunol. 2015. Т. 11, N 10. С. 1163 - 1172.

52. Feydy A. и др. Chest high resolution CT in adults with primary humoral immunodeficiency // Br. J. Radiol. 1996. Т. 69, N 828. С. 1108 - 1116.

53. Gharagozlou M. и др. Pulmonary complications in primary hypogammaglobulinemia: a survey by high resolution CT scan // Monaldi Arch. Chest Dis. 2016. Т. 65, N 2.

54. Malamut G. и др. The Enteropathy Associated With Common Variable Immunodeficiency: The Delineated Frontiers With Celiac Disease // Am. J. Gastroenterol. 2010. Т. 105, N 10. С. 2262 - 2275.

55. Eropean Medicines Agency. Guideline on the clinical investigation of human normal immunoglobulin for intravenous administration (IVIg) [Электронный ресурс]. 2018. URL: https://www.ema.europa.eu/en/documents/scientific-guideline/guideline-clinical-investigation-human-normal-immunoglobulin-intravenous-administration-ivig-rev-3_en.pdf.

56. World Health Organization. World Health Organization Model List of Essential Medicines 21st List [Электронный ресурс]. 2019. URL: https://www.who.int/medicines/publications/essentialmedicines/en/.

57. Ochs H.D., Pinciaro P.J. Octagam (R) 5%, an Intravenous IgG Product, Is Efficacious and Well Tolerated in Subjects with Primary Immunodeficiency Diseases // J. Clin. Immunol. 2004. Т. 24, N 3. С. 309 - 314.

58. Stein M.R. и др. Safety and Efficacy of Privigen(R), a Novel 10% Liquid Immunoglobulin Preparation for Intravenous Use, in Patients with Primary Immunodeficiencies // J. Clin. Immunol. 2009. Т. 29, N 1. С. 137 - 144.

59. Stein M.R. и др. Safety and efficacy of Home-Based Subcutaneous Immunoglobulin G in Elderly Patients with Primary Immunodeficiency Diseases // Postgrad. Med. 2011. Т. 123, N 5. С. 186 - 193.

60. Латышева Т.В., Латышева Е.А., Мартынова И.А. Место иммуноглобулинов для внутривенного введения в современной клинической практике: новый 10% иммуноглобулин. 2016. N 4. С. 82 - 87.

61. Хлудова Л.Г. и др. Оценка эффективности и безопасности 10% внутривенного иммуноглобулина привиджен в реальной клинической практике // Российский аллергологический журнал. 2019. N 4. С. 48 - 56.

62. Смирнова И.Н. и др. Фармакоэкономический анализ заместительной терапии внутривенным иммуноглобулином у пациентов с первичными дефектами гуморального звена иммунитета // Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016. Т. 15, N 1. С. 66 - 71.

63. Radosevich M., Burnouf T. Intravenous immunoglobulin G: trends in production methods, quality control and quality assurance // Vox Sang. 2010. Т. 98, N 1. С. 12 - 28.

64. Laursen I.A. и др. Development, Manufacturing and Characterization of a Highly Purified, Liquid Immunoglobulin G Preparation from Human Plasma // Transfus. Med. Hemotherapy. 2014. Т. 41, N 3. С. 205 - 212.

65. Киргизов К.И., Скоробогатова Е.В. Внутривенные иммуноглобулины: применение современных физиологичных растворов способно улучшить результаты терапии // Российский журнал детской онкологии и гематологии. 2015. Т. 2, N 2. С. 77.

66. Wasserman R.L. Personalized Therapy: Immunoglobulin Replacement for Antibody Deficiency. // Immunol. Allergy Clin. North Am. 2019. Т. 39, N 1. С. 95 - 111.

67. Garcia-Lloret M., McGhee S., Chatila T.A. Immunoglobulin Replacement Therapy in Children // Immunol. Allergy Clin. North Am. 2008. Т. 28, N 4. С. 833 - 849.

68. Кондратенко И.В., Бологов А.А. Внутривенные иммуноглобулины от создания до наших дней. 2018. N 6. С. 124 - 132.

69. Латышева Т.В., Латышева Е.А., Мартынова И.А. Оценка эффективности и безопасности препарата иммуноглобулина для внутривенного введения И.Г. Вена у пациентов с первичным иммунодефицитом с преимущественным нарушением синтеза антитела // Российский аллергологический журнал. 2016. N 1. С. 16 - 22.

70. Eijkhout H.W. и др. The Effect of Two Different Dosages of Intravenous Immunoglobulin on the Incidence of Recurrent Infections in Patients with Primary Hypogammaglobulinemia // Ann. Intern. Med. 2001. Т. 135, N 3. С. 165.

71. Goudouris E.S. и др. II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies // Einstein (Sao Paulo). 2017. Т. 15, N 1. С. 1 - 16.

72. Абрамова И.Н., Родина Ю.А., Щербина А.Ю. Эволюция препаратов внутривенных иммуноглобулинов и их клинического применения в педиатрической практике // Педиатрия Журнал им Г.Н. Сперанского. 2019. N 4. С. 210 - 217.

73. Walsh J.E. и др. Immunoglobulin replacement therapy reduces chronic rhinosinusitis in patients with antibody deficiency // Int. Forum Allergy Rhinol. 2017. Т. 7, N 1. С. 30 - 36.

74. Joud Hajjar и др. Prophylactic Antibiotics Versus Immunoglobulin Replacement in Specific Antibody Deficiency // J. Clin. Immunol. 2019.

75. Schwartz H.J. и др. The response to intravenous immunoglobulin replacement therapy in patients with asthma with specific antibody deficiency. // Allergy asthma Proc. Т. 27, N 1. С. 53 - 58.

76. Duse M. и др. Transient Hypogammaglobulinemia of Infancy: Intravenous Immunoglobulin as First Line Therapy // Int. J. Immunopathol. Pharmacol. 2010. Т. 23, N 1. С. 349 - 353.

77. Breslin M.E. и др. Transient hypogammaglobulinemia and severe atopic dermatitis: Open-label treatment with immunoglobulin in a case series // Allergy Rhinol. 2016. Т. 7, N 2. С. 69 - 73.

78. Abdou N.I. и др. Efficacy of Intravenous Gammaglobulin for Immunoglobulin G Subclass and/or Antibody Deficiency in Adults // Int. Arch. Allergy Immunol. 2009. Т. 149, N 3. С. 267 - 274.

79. Abrahamian F., Agrawal S., Gupta S. Immunological and clinical profile of adult patients with selective immunoglobulin subclass deficiency: response to intravenous immunoglobulin therapy // Clin. Exp. Immunol. 2010. Т. 159, N 3. С. 344 - 350.

80. Olinder-Nielsen A.-M. и др. Immunoglobulin prophylaxis in 350 adults with IgG subclass deficiency and recurrent respiratory tract infections: A long-term follow-up // Scand. J. Infect. Dis. 2007. Т. 39, N 1. С. 44 - 50.

81. Visitsunthorn N. и др. Immunoglobulin G (IgG) subclass deficiency in Thai children. // Asian Pacific J. allergy Immunol. 2011. Т. 29, N 4. С. 332 - 337.

82. Hanson L.A. и др. IgG subclass deficiency with or without IgA deficiency. // Clin. Immunol. Immunopathol. 1991. Т. 61, N 2 Pt 2. С. S70-7.

83. Quartier P. и др. Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: A retrospective survey of 31 patients // J. Pediatr. 1999. Т. 134, N 5. С. 589 - 596.

84. Gelfand E.W. Differences between IGIV products: Impact on clinical outcome // Int. Immunopharmacol. 2006. Т. 6, N 4. С. 592 - 599.

85. Camcoglu Y. Immunoglobulin Treatment of Immunodeficient Patients // Immunodeficiency. InTech, 2012.

86. Maarschalk-Ellerbroek L.J., Hoepelman I.M., Ellerbroek P.M. Immunoglobulin treatment in primary antibody deficiency // Int. J. Antimicrob. Agents. 2011. Т. 37, N 5. С. 396 - 404.

87. Латышева Е.А. и др. Персонифицированный подход - основа успеха при выборе препарата для заместительной терапии у пациентов с ПИД. // Российский аллергологический журнал. 2020. Т. 17, N 2. С. 81 - 101.

88. Brown K.E., Young N.S. Parvoviruses and Bone Marrow Failure // Stem Cells. 1996. Т. 14, N 2. С. 151 - 163.

89. Adams S.T.M. и др. Common Variable Immunodeficiency Presenting With Persistent Parvovirus B19 Infection // Pediatrics. 2012. Т. 130, N 6. С. e1711 - e1715.

90. Ruiz Gutierrez L. и др. Parvovirus B19 chronic monoarthritis in a patient with common variable immunodeficiency // Reumatol. Clinica. 2015. Т. 11, N 1. С. 58 - 59.

91. Sun A., Teschner W., Yel L. Improving patient tolerability in immunoglobulin treatment: focus on stabilizer effects // Expert Rev. Clin. Immunol. 2013. Т. 9, N 6. С. 577 - 587.

92. Cherin P., Cabane J. Relevant Criteria for Selecting an Intravenous Immunoglobulin Preparation for Clinical Use // BioDrugs. 2010. Т. 24, N 4. С. 211 - 223.

93. Dantal J. Intravenous Immunoglobulins: In-Depth Review of Excipients and Acute Kidney Injury Risk // Am. J. Nephrol. 2013. Т. 38, N 4. С. 275 - 284.

94. Shapiro R.S. Why I Use Subcutaneous Immunoglobulin (SCIG) // J. Clin. Immunol. 2013. Т. 33, N S2. С. 95 - 98.

95. Shabaninejad H. и др. A Comparative Study of Intravenous Immunoglobulin and Subcutaneous Immunoglobulin in Adult Patients with Primary Immunodeficiency Diseases: A Systematic Review and Meta-Analysis // Expert Rev. Clin. Immunol. 2016. Т. 12, N 5. С. 595 - 602.

96. Bonilla F.A. Intravenous and subcutaneous immunoglobulin G replacement therapy // Allergy Asthma Proc. 2016. Т. 37, N 6. С. 426 - 431.

97. N. Shah S., Todoric K.,. Tarrant T.K. Improved outcomes on subcutaneous IgG in patients with humoral immunodeficiency and co-morbid bowel disease // Clin. Case Reports Rev. 2015. Т. 1, N 7.

98. Garbett N.D., Currie D.C., Cole P.J. Comparison of the clinical efficacy and safety of an intramuscular and an intravenous immunoglobulin preparation for replacement therapy in idiopathic adult onset panhypogammaglobulinaemia. // Clin. Exp. Immunol. 1989. Т. 76, N 1. С. 1 - 7.

99. Garcia 00000005.wmz C. и др. [Treatment of primary immunodeficiencies with intravenous gamma globulin]. // An. Esp. Pediatr. 1987. Т. 27, N 6. С. 411 - 415.

100. Kuruvilla M., de la Morena M.T. Antibiotic Prophylaxis in Primary Immune Deficiency Disorders // J. Allergy Clin. Immunol. Pract. 2013. Т. 1, N 6. С. 573 - 582.

101. Kamae C. и др. Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin 00000006.wmz-deleting recombination excision circles // J. Allergy Clin. Immunol. 2013. Т. 131, N 5. С. 1437 - 1440.e5.

102. Nakagawa N. и др. Quantification of 00000007.wmz-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects // J. Allergy Clin. Immunol. 2011. Т. 128, N 1. С. 223 - 225.e2.

103. Korsunskiy I. и др. TREC and KREC Levels as a Predictors of Lymphocyte Subpopulations Measured by Flow Cytometry // Front. Physiol. 2019. Т. 9. С. 1877.

104. Rubin L.G. и др. 2013 IDSA Clinical Practice Guideline for Vaccination of the Immunocompromised Host // Clin. Infect. Dis. 2014. Т. 58, N 3. С. e44 - e100.

105. Sobh A., Bonilla F.A. Vaccination in Primary Immunodeficiency Disorders // J. Allergy Clin. Immunol. Pract. 2016. Т. 4, N 6. С. 1066 - 1075.

106. Martire B. и др. Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET) // Vaccine. 2018. Т. 36, N 24. С. 3541 - 3554.

107. Eibl M.M., Wolf H.M. Vaccination in patients with primary immune deficiency, secondary immune deficiency and autoimmunity with immune regulatory abnormalities // Immunotherapy. 2015. Т. 7, N 12. С. 1273 - 1292.

108. Латышева Т.В. и др. Вакцинация больных с первичными иммунодефицитами: современный взгляд на проблему // Российский аллергологический журнал. 2017. N 3. С. 19 - 26.

109. Хаитов Р.М., Сухих Г.Т. Ведение больных с Первичным иммунодефицитом в акушерстве. 2012.

110. Brinker K.A., Silk H.J. Common variable immune deficiency and treatment with intravenous immunoglobulin during pregnancy // Ann. Allergy, Asthma Immunol. 2012. Т. 108, N 6. С. 464 - 465.

111. Cunningham-Rundles C. Key aspects for successful immunoglobulin therapy of primary immunodeficiencies // Clin. Exp. Immunol. 2011. Т. 164. С. 16 - 19.

112. Gardulf A. и др. Rapid subcutaneous IgG replacement therapy at home for pregnant immunodeficient women. // J. Clin. Immunol. 2001. Т. 21, N 2. С. 150 - 154.

113. Palmeira P. и др. Transfer of antibodies across the placenta and in breast milk from mothers on intravenous immunoglobulin // Pediatr. Allergy Immunol. 2009. Т. 20, N 6. С. 528 - 535.

114. Ozdemir. Current Approach to Primary Immunodeficiency Diseases // South. Clin. Istanbul Eurasia. 2019.