Severe combined immunodeficiency

References

Key articles

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]. Abstract

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].Full text  Abstract

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.Full text  Abstract

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

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.Full text  Abstract

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.

Reference articles

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

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]. Abstract

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].Full text  Abstract

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.Full text  Abstract

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. Abstract

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). Abstract

7. 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.Full text  Abstract

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

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

23. Fischer A. Severe combined immunodeficiencies (SCID). Clin Exp Immunol. 2000 Nov;122(2):143-9.Full text  Abstract

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

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

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. Abstract

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

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. Abstract

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

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.Full text  Abstract

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

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.Full text  Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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

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.Full text  Abstract

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. Abstract

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

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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