მძიმე კომბინირებული იმუნოდეფიციტი

წყაროები

ძირითადი სტატიები

Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022 Oct 6 [Epub ahead of print]. აბსტრაქტი

Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Jun 24;1-35 [Epub ahead of print].სრული ტექსტი  აბსტრაქტი

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.სრული ტექსტი  აბსტრაქტი

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

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.სრული ტექსტი  აბსტრაქტი

Candotti F, de Villartay JP, Moshous D, et al. Severe combined immune deficiency. In: Sullivan KE, Stiehm ER, eds. Stiehm’s immune deficiencies: inborn errors in immunity. 2nd ed. Cambridge, MA: Academic Press, 2020:153-205.

გამოყენებული სტატიები

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

2. Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022 Oct 6 [Epub ahead of print]. აბსტრაქტი

3. Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Jun 24;1-35 [Epub ahead of print].სრული ტექსტი  აბსტრაქტი

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.სრული ტექსტი  აბსტრაქტი

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. აბსტრაქტი

6. Shillitoe B, Bangs C, Guzman D, et al. The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017. Clin Exp Immunol. 2018 Jun;192(3):284-91.სრული ტექსტი  აბსტრაქტი

7. 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). აბსტრაქტი

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

9. 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.სრული ტექსტი  აბსტრაქტი

10. 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.სრული ტექსტი  აბსტრაქტი

11. 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. აბსტრაქტი

12. Gaspar HB, Aiuti A, Porta F, et al. How I treat ADA deficiency. Blood. 2009 Oct 22;114(17):3524-32.სრული ტექსტი  აბსტრაქტი

13. 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. აბსტრაქტი

14. Al-Mousa H, Al-Dakheel G, Jabr A, et al. High incidence of severe combined immunodeficiency disease 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.სრული ტექსტი  აბსტრაქტი

15. 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.სრული ტექსტი  აბსტრაქტი

16. 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. აბსტრაქტი

17. 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. აბსტრაქტი

18. 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.სრული ტექსტი  აბსტრაქტი

19. 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. აბსტრაქტი

20. 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.სრული ტექსტი  აბსტრაქტი

21. 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.სრული ტექსტი  აბსტრაქტი

22. 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. აბსტრაქტი

23. Fischer A. Severe combined immunodeficiencies (SCID). Clin Exp Immunol. 2000 Nov;122(2):143-9.სრული ტექსტი  აბსტრაქტი

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

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

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

27. Centers for Disease Control and Prevention. Severe combined immunodeficiency (SCID). US Centers for Disease Control and Prevention. Mar 2019 [internet publication].სრული ტექსტი

28. Prendergast AJ, Goga AE, Waitt C, et al. Transmission of CMV, HTLV-1, and HIV through breastmilk. Lancet Child Adolesc Health. 2019 Apr;3(4):264-73. აბსტრაქტი

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

30. 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.სრული ტექსტი  აბსტრაქტი

31. Gennery AR, Cant AJ. Diagnosis of severe combined immunodeficiency. J Clin Pathol. 2001 Mar;54(3):191-5.სრული ტექსტი  აბსტრაქტი

32. 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.სრული ტექსტი  აბსტრაქტი

33. 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. აბსტრაქტი

34. Candotti F, de Villartay JP, Moshous D, et al. Severe combined immune deficiency. In: Sullivan KE, Stiehm ER, eds. Stiehm’s immune deficiencies: inborn errors in immunity. 2nd ed. Cambridge, MA: Academic Press, 2020:153-205.

35. 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. აბსტრაქტი

36. 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.სრული ტექსტი  აბსტრაქტი

37. 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.სრული ტექსტი  აბსტრაქტი

38. 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. აბსტრაქტი

39. 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. აბსტრაქტი

40. 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.სრული ტექსტი  აბსტრაქტი

41. 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. აბსტრაქტი

42. 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. აბსტრაქტი

43. 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. აბსტრაქტი

44. 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.სრული ტექსტი  აბსტრაქტი

45. 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.

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

47. 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. აბსტრაქტი

48. 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. აბსტრაქტი

49. 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. აბსტრაქტი

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

51. 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.სრული ტექსტი  აბსტრაქტი

52. 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. აბსტრაქტი

53. 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. აბსტრაქტი

54. 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.სრული ტექსტი  აბსტრაქტი

55. 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. აბსტრაქტი

56. 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. აბსტრაქტი

57. 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. აბსტრაქტი

58. 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. აბსტრაქტი

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

60. Reinhardt B, Habib O, Shaw KL, et al. Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency. Blood. 2021 Oct 14;138(15):1304-16.სრული ტექსტი  აბსტრაქტი

61. Chetty K, Houghton BC, Booth C. Gene Therapy for inborn errors of immunity: severe combined immunodeficiencies. Hematol Oncol Clin North Am. 2022 Aug;36(4):813-27. აბსტრაქტი

62. ClinicalTrials.gov. JSP191 antibody targeting conditioning in SCID patients. ClinicalTrials.gov identifier: NCT02963064. Nov 2021 [internet publication].სრული ტექსტი

63. 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. აბსტრაქტი

64. Lankester AC, Neven B, Mahlaoui N, et al. Hematopoietic cell transplantation in severe combined immunodeficiency: the SCETIDE 2006-2014 European cohort. J Allergy Clin Immunol. 2022 May;149(5):1744-54.e8.სრული ტექსტი  აბსტრაქტი

65. Ghimenton E, Flinn A, Lum SH, et al. Hematopoietic cell transplantation for adenosine deaminase severe combined immunodeficiency-improved outcomes in the modern era. J Clin Immunol. 2022 May;42(4):819-26.სრული ტექსტი  აბსტრაქტი

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