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Список литературы

1. Иммунология детского возраста. Практическое руководство по детским болезням. Под ред. А.Ю. Щербины и Е.Д. Пашанова. М.: Медпрактика-М; 2006.

2. Кузьменко, Н.Б. Классификация первичных иммунодефицитов как отражение современных представлений об их патогенезе и терапевтических подходах. Н.Б. Кузьменко, А.Ю. Щербина. Российский журнал детской гематологии и онкологии (РЖДГиО), 2017, Т. 4(3): С. 51 - 57.

3. Van der Burg M, Gennery AR. Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur J Pediatr. 2011; 170(5): 561 - 71.

4. H. Bobby Gaspar. How I treat severe combined immunodeficiency. Blood 2013, 122: 3749 - 3758.

5. Bousfiha A1, Jeddane L2,3, Picard C4,5, Ailal F2, Bobby Gaspar H6, Al-Herz W7, Chatila T, Crow YJ et al. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018 Jan; 38(1): 129 - 143.

6. Kwan A, Abraham RS, Currier R, Brower A et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 20; 312(7): 729 - 38

7. Puck JM. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J Allergy Clin Immunol. 2007; 120(4): 760 - 8.

8. Richards S, Pitt J, Choo S. Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots. J Paediatr Child Health. 2018 Jan; 54(1): 14 - 19.

9. http://esid.org/Working-Parties/Registry/Diagnosis-criteria

10. Marciano BE, Huang CY, Joshi G, Rezaei N, Carvalho BC, Allwood Z, Ikinciogullari A, Reda SM, Gennery A, Thon V, Espinosa-Rosales F, Al-Herz W, Porras O, Shcherbina A et al. BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. J Allergy Clin Immunol. 2014; 133(4): 1134 - 41.

11. Fazlollahi MR, Pourpak Z, Hamidieh AA, Movahedi M, Houshmand M, Badalzadeh M, et al. Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade's Experience. J Investig Allergol Clin Immunol. 2017; 27(5): 299 - 304.

12. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2014 Apr; 133(4): 1092 - 8.

13. Francisco A. Bonilla, David A. Khan, Zuhair K. Ballas, Javier Chinen, Michael M. Frank, Joyce T. Hsu at el. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov; 136(5): 1186 - 1205.

14. Chapel H., Prevot J., Gaspar H.B., , 00000003.wmz T., Bonilla F.A., Solis L et al. Primary immunedeficiencies - principles of care. Frontiers in Immunology, 2014. 5. 627.

15. Lehman H, Hernandez-Trujillo V, Ballow M. Diagnosing primary immunodeficiency: a practical approach for the non-immunologist. Curr Med Res Opin. 2015 Apr; 31(4): 697 - 706.

16. van der Spek J1, Groenwold RH, van der Burg M, van Montfrans JM. TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review. J Clin Immunol. 2015 May; 35(4): 416 - 30.

17. Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunol Rev. 2019 Jan; 287(1): 241 - 252.

18. J. Wahlstrom, K. Patel, E. Eckhert, D. Kong, B. Horn, M.J. Cowan, C.C. et al. Transplacental Maternal Engraftment and Post-Transplant Graft-versus-Host Disease in Children with Severe Combined Immunodeficiency. J Allergy Clin Immunol. 2017 Feb; 139(2): 628 - 633.

19. Кузьменко, Н.Б. Молекулярно-генетическая диагностика первичных иммунодефицитных состояний (обзор литературы и собственные клинические наблюдения). Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15(1): 10 - 16.

20. Щербина А.Ю. Маски первичных иммунодефицитных состояний: проблемы диагностики и терапии. Российский журнал детской гематологии и онкологии (РЖДГиО). 2016; 3(1): 52 - 58.

21. Antoine C, 00000004.wmz S, Cant A, Cavazzana-Calvo M, Veys P, Vossen J et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968 - 99. Lancet 2003; 361: 553.

22. Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: long-term outcomes. Immunol Res 2011; 49: 25 - 28.

23. Eveline Y. Wul, Lauren Ehrlich, Brian Handly, Donald P. Frush, Rebecca H. Buckley. Clinical and imaging considerations in primary immunodeficiency disorders: an update. Pediatr Radiol, 2016 November; 46(12): 1630 - 1644.

24. Mirac Yildirim, Deniz Cagdas Ayvaz, Bahadir Konuskan, Rahsan Gocmen, Ilhan Tezcan, Meral Topcu at. el. Neurologic Involvement in Primary Immunodeficiency Disorders. J Child Neurol. 2018 Apr; 33(5): 320 - 328.

25. Calvo CM, Hartnett ME. The utility of ultra-widefield fluorescein angiography in pediatric retinal diseases. Int J Retina Vitreous. 2018 Jun 5; 4: 21.

26. Notarangelo LD, Plebani A, Mazzolari E, Soresina A, Bondioni MP. Genetic causes of bronchiectasis: primary immune deficiencies and the lung. Respiration. 2007; 74(3): 264 - 275.

27. Miguel V., Mejias A., Ramilo O., Ardura M., 00000005.wmz PJ. Cytomegalovirus Meningitis in an Infant with Severe Combined Immunodeficiency. J Pediatr. 2016 Jun; 173: 235 - 7.

28. Rivers L, Gaspar HB. Severe combined immunodeficiency: recent developments and guidance on clinical management. Arch Dis Child. 2015; 100(7): 667 - 72.

29. John S. Bradley, John D. Nelson. Nelson"s Pediatric Antimicrobial Therapy. American Academy of Pediatrics; January 2018

30. Gennery A. Recent advances in treatment of severe primary immunodeficiencies [version 1; referees: 2], F1000 Research 2015, 4 (F1000 Faculty Rev): 1459.

31. Marciano BE, Holland SM. Primary Immunodeficiency Diseases: Current and Emerging Therapeutics. Front Immunol. 2017 Aug 9; 8: 937.

32. Kuruvilla M, de la Morena MT. Antibiotic prophylaxis in primary immune deficiency disorders. J Allergy Clin Immunol Pract. 2013 Nov-Dec; 1(6): 573 - 82.

33. Marciano BE, Huang C-Y, Joshi G, N. Rezaei, BC Carvalho, Z. Allwood et. al. BCG vaccination in SCID patients: complications, risks and vaccination policies. J Allergy Clin Immunol. 2014 Apr; 133(4): 1134 - 1141.

34. Ю.А. Родина, А.Л. Лаберко, Г.Г. Солопова, Д.Н. Балашов, А.Ю. Щербина. БЦЖ-ассоциированный синдром активации макрофагов у пациентов с тяжело комбинированной иммунной недостаточностью после трансплантации гемопоэтических стволовых клеток. Вопросы гематологии/онкологии и иммунопатологии в педиатрии, 2016, т. 15, N 1, с. 82

35. Brady MT, Byington CL, Davies HD, Edwards KM, Jackson MA, Maldonado YA et. al. Updated guidance for palivizumab prophylaxis among infants and young children at increased risk of hospitalization for respiratory syncytial virus infection. Pediatrics. 2014 Aug; 134(2): 620 - 38.

36. Aguilar C, Malphettes M, Donadieu J, Chandesris O, Coignard-Biehler H, Catherinot E et al. Prevention of infections during primary immunodeficiency. Clin Infect Dis. 2014 Nov 15; 59(10): 1462 - 70.

37. Walter JE, Farmer JR, Foldvari Z, Torgerson TR, Cooper MA. Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies. J Allergy Clin Immunol Pract. 2016 Nov - Dec; 4(6): 1089 - 1100.

38. Pariyaprasert W, Pacharn P, Visitsunthorn N, Chokephaibulkit K, Sanpakit K, Viprakasit V et. al. Successful treatment of disseminated BCG infection in a SCID patient with granulocyte colony stimulating factor. Asian Pac J Allergy Immunol. 2008 Mar; 26(1): 71 - 5.

39. Stephanie Albin, Charlotte Cunningham-Rundles. An update on the use of immunoglobulin for the treatment of immunodeficiency disorders. Immunotherapy. 2014; 6(10): 1113 - 1126.

40. Shapiro RS, Borte M. 7th International Immunoglobulin Conference: Immunoglobulin in clinical practice. Clin Exp Immunol. 2014 Dec; 178 Suppl 1: 65 - 6.

41. Elena E. Perez, Jordan S. Orange, Francisco Bonilla, Javier Chinen, Ivan K. Chinn. Update on the use of immunoglobulin in human disease: A review of evidence. JCI, 2017 Mar; vol. 139(3): 1 - 46.

42. Nicholas Brodszki, Dominik Turkiewicz, Jacek Toporski, Lennart Truedsson, Josefina Dykes. Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions. Orphanet Journal of Rare Diseases, 2016, 11: 5.

43. Uhlin M, Gertow J, Uzunel, Okas M, Berglund S, Watz E et. al. Rapid salvage treatment with virus-specific T cells for therapy-resistant disease. Clin Infect Dis. 2012 Oct; 55(8): 1064 - 73.

44. Bao L, Cowan MJ, Dunham K, Horn B, McGuirk J, Gilman A, Lucas KG. Adoptive immunotherapy with CMV-specific cytotoxic T lymphocytes for stem cell transplant patients with refractory CMV infections. J Immunother. 2012 Apr; 35(3): 293 - 8.

45. Руководство по применению компонентов донорской крови. ГОСТ 52938-2008. Гематологический научный центр РАМН.

46. EBMT/ESID guidelines for haematopoietic stem cell transplantation for primary immunodeficiencies. https://esid.org/Working-Parties/Inborn-Errors-Working-Party-IEWP/Resources.

47. И.В. Кондратенко, О.Е. Пащенко, Ю.А. Родина, М.В. Белевцев, M. van den Burg, А.А. Бологов. Клинико-лабораторные фенотипы тяжелых комбинированных иммунодефицитов, вызванных мутациями генов RAG1/RAG2. Аллергология и иммунология в педиатрии, 2012. - N 3. - С. 13 - 20.

48. А.Л. Лаберко, М.А. Масчан, Л.Н. Шелихова, Ю.В. Скворцова, И.П. Шипицына, Е.И. Гутовская, И.Н. Смирнова, Ю.А. Родина, Е.В. Дерипапа, С.А. Дибирова, И.Г. Хамин, Г.А. Новичкова, А.А. Масчан, А.Ю. Щербина, Д.Н. Балашов. Опыт применения 00000006.wmz и CD19+ деплеции при неродственных и гаплоидентичных трансплантациях гемопоэтических стволовых клеток у детей с первичными иммунодефицитными состояниями. Вопросы гематологии/онкологии и иммунопатологии в педиатрии, 2016, т. 15, N 1, с. 72 - 80.

49. Cavazzana-Calvo M., AndrtS-Schmutz I., Fischer A. Haematopoietic stem cell transplantation for SCID patients: where do we stand? Br. J. Haematol, 2013 Jan; 160(2): 146 - 152.

50. Fischer A., Hacein-Bey-Abina S., Cavazzana-Calvo M. Gene therapy of primary T cell immunodeficiencies. Gene. Aug 2013; 525(2): 170 - 173.

51. Cavazzana M., Six E., Lagresle-Peyrou C., 00000007.wmz I., Hacein-Bey-Abina S. Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand? Hum Gene Ther. 2016 Feb; 27(2): 108 - 16.

52. Alessandro Aiuti, Maria Grazia Roncarolo, Luigi Naldini. Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products. EMBO Mol Med. 2017 Jun; 9(6): 737 - 740.

53. Kohn DB, Kuo CY. New frontiers in the therapy of primary immunodeficiency: From gene addition to gene editing. J Allergy Clin Immunol. 2017 Mar; 139(3): 726 - 732.