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Lim CK, Abolhassani H, Appelberg SK, et al. . Allergy Asthma Clin Immunol. 2019;15:2doi: 10.1186/s13223-018-0317-y.
Lim, C. K., Abolhassani, H., Appelberg, S. K., Sundin, M., & Hammarström, L. (2019). . Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 152. https://doi.org/10.1186/s13223-018-0317-y
Lim, Che Kang, et al. "." Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology vol. 15 (2019): 2. doi: https://doi.org/10.1186/s13223-018-0317-y
Lim CK, Abolhassani H, Appelberg SK, Sundin M, Hammarström L. . Allergy Asthma Clin Immunol. 2019 Jan 05;15:2. doi: 10.1186/s13223-018-0317-y. eCollection 2019. PMID: 30622570; PMCID: PMC6320602.
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Allergy Asthma Clin Immunol. 2019 Jan 05;15:2. doi: 10.1186/s13223-018-0317-y. eCollection 2019.

[No title available]

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology

Che Kang Lim, Hassan Abolhassani, Sofia K Appelberg, Mikael Sundin, Lennart Hammarström

Affiliations

  1. 1Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.
  2. 2Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore.
  3. 3Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  4. 4Department of Blood Disorders, Immunodeficiency and Stem Cell Transplantation, Astrid Lindgren Children's Hospital, Stockholm, Sweden.
  5. 5Division of Pediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.
  6. 6BGI-Shenzhen, Shenzhen, 518083 China.

PMID: 30622570 PMCID: PMC6320602 DOI: 10.1186/s13223-018-0317-y

Abstract

BACKGROUND: Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma (

CASE PRESENTATION: We report a 16-year-old patient with a T

CONCLUSION: This is the first report of an atypical X-SCID phenotype due to an exon 8 mutation in the

Keywords: Atypical severe combined immunodeficiency; Hypomorphic mutations; Interleukin 2 receptor gamma

References

  1. Br J Haematol. 1999 Jul;106(1):190-4 - PubMed
  2. Clin Immunol. 2000 Apr;95(1 Pt 1):33-8 - PubMed
  3. Clin Immunol. 2000 Apr;95(1 Pt 1):39-50 - PubMed
  4. Immunol Rev. 2000 Dec;178:39-48 - PubMed
  5. Clin Exp Immunol. 2002 Sep;129(3):502-9 - PubMed
  6. Hum Mutat. 2004 May;23(5):522-3 - PubMed
  7. Mol Cell Biol. 2004 Jun;24(11):5039-49 - PubMed
  8. J Pediatr. 2005 Oct;147(4):555-7 - PubMed
  9. Blood. 2008 Sep 1;112(5):1872-5 - PubMed
  10. J Immunol. 2009 Sep 1;183(5):2911-4 - PubMed
  11. Clin Immunol. 2011 Oct;141(1):73-82 - PubMed
  12. Am J Physiol Cell Physiol. 2012 Mar 1;302(5):C735-47 - PubMed
  13. J Clin Invest. 1990 Nov;86(5):1623-31 - PubMed
  14. Pediatr Blood Cancer. 2014 Jan;61(1):178-9 - PubMed
  15. Front Immunol. 2013 Dec 12;4:450 - PubMed
  16. Nat Genet. 2014 Mar;46(3):310-5 - PubMed
  17. Clin Immunol. 2014 Aug;153(2):332-42 - PubMed
  18. J Allergy Clin Immunol. 2014 Dec;134(6):1375-1380 - PubMed
  19. Eur J Immunol. 2014 Oct;44(10):3129-40 - PubMed
  20. Nat Methods. 2016 Feb;13(2):109-10 - PubMed
  21. J Clin Immunol. 2016 May;36 Suppl 1:68-75 - PubMed
  22. J Clin Immunol. 2018 Jan;38(1):56-66 - PubMed
  23. J Clin Invest. 1995 Mar;95(3):1169-73 - PubMed
  24. Proc Natl Acad Sci U S A. 1994 Sep 27;91(20):9466-70 - PubMed
  25. Science. 1994 Nov 11;266(5187):1042-5 - PubMed
  26. Cell. 1993 Apr 9;73(1):147-57 - PubMed
  27. Blood. 1996 Sep 1;88(5):1708-17 - PubMed
  28. N Engl J Med. 1996 Nov 21;335(21):1563-7 - PubMed
  29. Immunol Today. 1996 Nov;17(11):507-11 - PubMed
  30. Blood. 1997 Mar 15;89(6):1968-77 - PubMed
  31. Hum Genet. 1997 May;99(5):677-80 - PubMed
  32. Acta Paediatr Jpn. 1997 Aug;39(4):442-7 - PubMed
  33. J Clin Invest. 1997 Dec 15;100(12):3036-43 - PubMed
  34. Hum Genet. 1998 Dec;103(6):730-1 - PubMed
  35. Clin Exp Immunol. 1999 Feb;115(2):356-61 - PubMed

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