Imunodeficiência combinada grave

Referências

Principais artigos

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]. Resumo

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].Texto completo  Resumo

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.Texto completo  Resumo

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

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.Texto completo  Resumo

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.

Artigos de referência

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

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]. Resumo

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].Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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). Resumo

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

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

23. Fischer A. Severe combined immunodeficiencies (SCID). Clin Exp Immunol. 2000 Nov;122(2):143-9.Texto completo  Resumo

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

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

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. Resumo

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

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. Resumo

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

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.Texto completo  Resumo

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

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.Texto completo  Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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

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.Texto completo  Resumo

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. Resumo

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

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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