Тяжелый комбинированный иммунодефицит (ТКИД)

Список литературы

Основные статьи

Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol. 2018 Jan;38(1):129-43.Полный текст  Аннотация

Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78.Полный текст  Аннотация

Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann Rev Immunol. 2004:22:625-55. Аннотация

Stiehm RE, Ochs HD, Winkelstein JA. Immunologic disorders in infants and children, 5th edition. Pennsylvania: Saunders; 2004.

Статьи, указанные как источники

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

2. Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol. 2018 Jan;38(1):129-43.Полный текст  Аннотация

3. Picard C, Bobby Gaspar H, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018 Jan;38(1):96-128.Полный текст  Аннотация

4. Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78.Полный текст  Аннотация

5. Routes J, Abinun M, Al-Herz W, et al. ICON: The early diagnosis of congenital immunodeficiencies. J Clin Immunol. 2014 May;34(4):398-424. Аннотация

6. Amatuni GS, Currier RJ, Church JA, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010-2017. Pediatrics. 2019 Feb;143(2). Аннотация

7. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann Rev Immunol. 2004:22:625-55. Аннотация

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

9. Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014 Jul 31;371(5):434-46.Полный текст  Аннотация

10. Buckley RH, Schiff RI, Schiff SE, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997 Mar;130(3):378-87. Аннотация

11. Gaspar HB, Aiuti A, Porta F, et al. How I treat ADA deficiency. Blood. 2009 Oct 22;114(17):3524-32.Полный текст  Аннотация

12. El-Mouzan MI, Al-Salloum AA, Al-Herbish AS, et al. Regional variations in the prevalence of consanguinity in Saudi Arabia. Saudi Med J. 2007 Dec;28(12):1881-4. Аннотация

13. Al-Mousa H, Al-Dakheel G, Jabr A, et al. High incidence of severe combined immunodeficiency cisease in Saudi Arabia detected through combined T cell receptor excision circle and next generation sequencing of newborn dried blood spots. Front Immunol. 2018 Apr 16;9:782.Полный текст  Аннотация

14. Kalman L, Lindegren ML, Kobrynski L, et al. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet Med. 2004 Jan-Feb;6(1):16-26.Полный текст  Аннотация

15. Fischer A, Le Deist F, Hacein-Bey-Abina S, et al. Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol Rev. 2005 Feb;203:98-109. Аннотация

16. Dalal I, Grunebaum E, Cohen A, et al. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet. 2001 Jun;59(6):430-7. Аннотация

17. Dvorak CC, Haddad E, Buckley RH, et al. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). J Allergy Clin Immunol. 2019 Jan;143(1):405-7.Полный текст  Аннотация

18. Pannicke U, Honig M, Hess I, et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet. 2009 Jan;41(1):101-5. Аннотация

19. Hoenig M, Lagresle-Peyrou C, Pannicke U, et al. Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. Blood. 2017 May 25;129(21):2928-38.Полный текст  Аннотация

20. Heimall J, Buckley RH, Puck J, et al. Recommendations for screening and management of late effects in patients with severe combined immunodeficiency after allogenic hematopoietic cell transplantation: a consensus statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. Biol Blood Marrow Transplant. 2017 Aug;23(8):1229-40.Полный текст  Аннотация

21. Diamond CE, Sanchez MJ, LaBelle JL. Diagnostic criteria and evaluation of severe combined immunodeficiency in the neonate. Pediatr Ann. 2015 Jul;44(7):e181-7. Аннотация

22. Fischer A. Severe combined immunodeficiencies (SCID). Clin Exp Immunol. 2000 Nov;122(2):143-9.Полный текст  Аннотация

23. Dvorak CC, Cowan MJ. Hematopoietic stem cell transplantation for primary immune deficiency disease. Bone Marrow Transplant. 2008 Jan;41(2):119-26. Аннотация

24. Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res. 2011 Apr;49(1-3):25-43.Полный текст  Аннотация

25. Chase NM, Verbsky JW, Routes JM. Newborn screening for SCID: three years of experience. Ann N Y Acad Sci. 2011 Nov;1238:99-105. Аннотация

26. Centers for Disease Control and Prevention. Severe combined immunodeficiency (SCID). US Centers for Disease Control and Prevention. March 2019 [internet publication].Полный текст

27. Chinen J, Shearer WT. 6. Secondary immunodeficiencies, including HIV infection. J Allergy Clin Immunol. 2008 Feb;121(2 Suppl):S388-92; quiz S417. Аннотация

28. Jilkina O, Thompson JR, Kwan L, et al. Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases. Mol Genet Metab Rep. 2014 Aug 7;1:324-33.Полный текст  Аннотация

29. Gennery AR, Cant AJ. Diagnosis of severe combined immunodeficiency. J Clin Pathol. 2001 Mar;54(3):191-5.Полный текст  Аннотация

30. Kwong PC, O'Marcaigh AS, Howard R, et al. Oral and genital ulceration: a unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency. Arch Dermatol. 1999 Aug;135(8):927-31.Полный текст  Аннотация

31. Buck D, Moshous D, de Chasseval R, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006 Jan;36(1):224-35. Аннотация

32. Stiehm RE, Ochs HD, Winkelstein JA. Immunologic disorders in infants and children, 5th edition. Pennsylvania: Saunders; 2004.

33. Masuda Y, Kamiya K. Molecular nature of radiation injury and DNA repair disorders associated with radiosensitivity. Int J Hematol. 2012 Mar;95(3):239-45. Аннотация

34. Adachi N, Ishino T, Ishii Y, et al. DNA ligase IV-deficient cells are more resistant to ionizing radiation in the absence of Ku70: Implications for DNA double-strand break repair. Proc Natl Acad Sci U S A. 2001 Oct 9;98(21):12109-13.Полный текст  Аннотация

35. Zha S, Alt FW, Cheng HL, et al. Defective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4518-23.Полный текст  Аннотация

36. Krishna MT, Tarrant JL, Cheadle EA, et al. An audit of lymphopenia in infants under 3 months of age. Arch Dis Child. 2008 Jan;93(1):90-1. Аннотация

37. Shearer WT, Dunn E, Notarangelo LD, et al. 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. Аннотация

38. Punwani D, Pelz B, Yu J, et al. Coronin-1A: immune deficiency in humans and mice. J Clin Immunol. 2015 Feb;35(2):100-7.Полный текст  Аннотация

39. Manson D, Diamond L, Oudjhane K, et al. Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life. Pediatr Radiol. 2013 Mar;43(5):589-92. Аннотация

40. Grunebaum E, Zhang J, Roifman CM. Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1411-5. Аннотация

41. Daguindau N, Decot V, Nzietchueng R, et al. Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up. Clin Immunol. 2008 Aug;128(2):164-71. Аннотация

42. Tomita-Mitchell A, Mahnke DK, Larson JM, et al. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics. 2010 Sep;42A(1):52-60.Полный текст  Аннотация

43. Routes JM, et al. Update of statewide newborn screening program for severe combined immunodeficiency (SCID) by T-cell receptor excision circles (TRECs). J Allergy Clin Immunol. 2009:123:S68.

44. Filipovich A. Hematopoietic cell transplantation for correction of primary immunodeficiencies. Bone Marrow Transplant. 2008 Aug;42 Suppl 1:S49-52. Аннотация

45. Farinelli G, Capo V, Scaramuzza S, et al. Lentiviral vectors for the treatment of primary immunodeficiencies. J Inherit Metab Dis. 2014 Jul;37(4):525-33. Аннотация

46. Griffith LM, Cowan MJ, Kohn DB, et al. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol. 2008 Dec;122(6):1087-96. Аннотация

47. Grunebaum E, Mazzolari E, Porta F, et al. Bone marrow transplantation for severe combined immune deficiency. JAMA. 2006 Feb 1;295(5):508-18. Аннотация

48. Griffith LM, Cowan MJ, Notarangelo LD, et al. Primary immune deficiency treatment consortium (PIDTC) report. J Allergy Clin Immunol. 2014 Feb;133(2):335-47.Полный текст  Аннотация

49. Bakare N, Menschik D, Tiernan R, et al. Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS). Vaccine. 2010 Sep 14;28(40):6609-12. Аннотация

50. Kohn DB, Hershfield MS, Puck JM, et al. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019 Mar;143(3):852-63. Аннотация

51. Chan B, Wara D, Bastian J, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin Immunol. 2005 Nov;117(2):133-43. Аннотация

52. Booth C, Gaspar HB. Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). Biologics. 2009;3:349-58.Полный текст  Аннотация

53. Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol. 2007 May;123(2):139-47. Аннотация

54. Sokolic R, Kesserwan C, Candotti F. Recent advances in gene therapy for severe congenital immunodeficiency diseases. Curr Opin Hematol. 2008 Jul;15(4):375-80. Аннотация

55. Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science. 2002 Jun 28;296(5577):2410-3. Аннотация

56. Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009 Jan 29;360(5):447-58. Аннотация

57. European Medicines Agency. New gene therapy for the treatment of children with ultra-rare immune disorder recommended for approval. April 2016 [internet publication].Полный текст

58. Antoine C, Muller S, Cant A, et al. European Group for Blood and Marrow Transplantation; European Society for Immunodeficiency. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies; report of the European experience 1968-99. Lancet. 2003 Feb 15;361(9357):553-60. Аннотация

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