Список литературы

1. Роппельт А.А., Юхачева Д.В. и др. X-сцепленный лимфопролиферативный синдром 1 и 2 типов//Вопросы гематологии/онкологии и иммунологии в педиатрии. 2016; Т. 15(1). с. 17 - 26.

2. Primary immunodeficiency diseases: A molecular and genetic approach. 3^rd edition. Ochs HD, Smith CI, Puck JM, eds. Oxford University press; 2013.

3. Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010; 116(7): 1079 - 82.

4. Marsh R.A., Bleesing J.J., Filipovich A.H. Using Flow Cytometry to Screen Patients for X-linked Lymphoproliferative Disease Due to SAP Deficiency and XIAP Deficiency. J. Immunol. Methods. 2010; 362(1 - 2): 1 - 9.

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

6. Booth C., Gilmour K.C., Veys P., Gennery A.R., Slatter M.A., Chapel H., et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 2011; 117(1): 53 - 62.

7. Purtilo DT, Grierson HL, Davis JR, Okano M. The X-linked lymphoproliferative disease: from autopsy toward cloning the gene 1975 - 1990. Pediatr Pathol. 1991; 11(5): 685 - 710.

8. Tangye SG. XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. J Clin Immunol. 2014; 34(7): 772 - 9.

9. Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood. 2011; 117(5): 1522 - 9.

10. Latour S., Aguilar C. XIAP deficiency syndrome in humans. Semin Cell Dev Biol. 2015; 39: 115 - 23.

11. Bertrand M.J., et al. Cellular inhibitors of apoptosis cIAP1 and cIAP2 are required for innate immunity signaling by the pattern recognition receptors NOD1 and NOD2. Immunity. 2009; 30: 789 - 801.

12. Ammann S., et al. A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency. Clinical and Experimental Immunology. 2014; 176: 394 - 400.

13. Yabal M., , et al. XIAP restricts TNF- and RIP3-dependent cell death and inflammasome activation. Cell Rep. 2014; 7(6): 1796 - 808.

14. Ravell J, Chaigne-Delalande B, Lenardo M. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. Curr Opin Pediatr. 2014 Dec; 26(6): 713 - 9.

15. Li FY, et al Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN). Eur J Hum Genet. 2015 Jun; 23(6).

16. Aguilar C, Latour S. X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome. J Clin Immunol. 2015; 35(4): 331 - 8.

17. Woon S.T. et al. Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female. Scand J Immunol. 2008; 68(2): 153 - 8.

18. Yang X. et al. A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele. J. Clin. Immunol. 2015; 35(3): 244 - 8.

19. Picard C. et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity s. J. Clin. Immunol. 2017; 38(1): 96 - 128.

20. Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011; 13(3): 255 - 62.

21. Aguilar C, Lenoir C, Lambert N, , Brousse N, Canioni D, et al. Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. J Allergy Clin Immunol. 2014; 134(5): 1131 - 41. e9.

22. Seemayer TA, Gross TG, Egeler RM, Pirruccello SJ, Davis JR, Kelly CM, et al. X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res. 1995; 38(4): 471 - 8.

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

24. Rigaud S, , Lambert N, Pasquier B, Mateo V, Soulas P, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006; 444(7115): 110 - 4.

25. Кузьменко Н.Б., Варламова Т.В., Мерсиянова И.В., Райкина Е.В., Бобрынина В.О., Щербина А.Ю. Молекулярно-генетическая диагностика первичных иммунодефицитных состояний. Вопросы гематологии\онкологии и иммунопатологии в педиатрии. 2016; 15(1): 10 - 16.

26. Mischler M, Fleming GM, Shanley TP, Madden L, Levine J, Castle V, et al. Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease: a mimicker of sepsis in the pediatric intensive care unit. Pediatrics. 2007; 119(5): 1212 - 8.

27. Chellapandian D, Das R, Zelley K, Wiener SJ, Zhao H, Teachey DT, et al. Treatment of Epstein Barr virus-induced haemophagocytic lymphohistiocytosis with rituximab-containing chemo-immunotherapeutic regimens. Br J Haematol. 2013; 162(3): 376 - 82.

28. Talaat K. R. et al. Lymphocytic Vasculitis Involving the Central Nervous System Occurs in Patients with X-linked Lymphoproliferative Disease in the Absence of Epstein-Barr Virus Infection. Pediatr Blood Cancer. 2009; 53(6): 1120 - 1123.

29. Speckmanna C., et al. X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clinical Immunology. 2013; 149: 133 - 141.

30. Jordan M.B. Emergence of Targeted Therapy for Hemophagocytic Lymphohistiocytosis//The hematologist. 2018; VOL. 15, Issue 2.

31. Horne A., , et al. How to Treat Involvement of the Central Nervous System in Hemophagocytic Lymphohistiocytosis? Curr. Treat. Options Neurol. 2017; 19(1): 3.

32. Sin J.H., Zangardi M.L. Ruxolitinib for secondary hemophagocytic lymphohistiocytosis: First case report. Hematol. Oncol. Stem Cell Ther. 2017.

33. Деордиева Е.А. Нейтропения в практике детского гематолога/онколога/Е.А. Деордиева, А.Ю. Щербина//Онкогематология. - 2015. - N 1. - С. 46 - 52.

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

35. Lortholary O., Dupont B. Antifungal prophylaxis during neutropenia and immunodeficiency. Clin. Microbiol. Rev. 1997; 10(3): 477 - 504.

36. Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011; 13(3): 255 - 62.

37. Balashov D., Shcherbina A., Maschan M., et al. Single-Center Experience of Unrelated and Haploidentical Stem Cell Transplantation with and CD19 Depletion in Children with Primary Immunodeficiency Syndromes. Biol. Blood Marrow Transplant. 2015; 21(11): 1955 - 62.

38. Стратегия медико-психолого-социальной реабилитации детей с гематологическими и онкологическими заболеваниями./Н.Н. Володин, В.Н. Касаткин, Г.Я. Цейтлин и др.//Онкогематология. - 2015 - Т. 1 - С. 7 - 15.

39. Booth C., Gaspar H.B., Thrasher A.J. Treating Immunodeficiency through HSC Gene Therapy. Trends Mol Med. 2016; 22(4): 317 - 327.

40.