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Journal of Clinical Immunology

, Volume 36, Issue 1, pp 12–15 | Cite as

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

  • Alison Joanne LeeEmail author
  • Marcela Moncada-Vélez
  • Capucine Picard
  • Genevieve Llanora
  • Chiung-Hui Huang
  • Laurent Abel
  • Si Min Chan
  • Bee-Wah Lee
  • Jean-Laurent Casanova
  • Jacinta Bustamante
  • Lynette Pei-Chi Shek
  • Stéphanie Boisson-DupuisEmail author
Letter to Editor

To the Editor,

We report a 9 year-old Chinese girl, born full term with no family history of recurrent infections or immunodeficiency. She had received hepatitis B and BCG vaccinations at birth without complications. She had multiple infections in infancy including Klebsiella pneumoniae urinary tract infection at 1 month and another two episodes of Klebsiella pneumoniae bacteremia at 2 and 10 months of age, all treated with intravenous ceftriaxone with good recovery and documented clearance. However at 10 months, after presenting with fever, a macular rash, and hepatosplenomegaly, she was diagnosed with extensive abdominal lymphadenopathy on CT scan. The abdominal lymph node biopsy showed granulomatous formation and sensitive Mycobacterium tuberculosis complex was cultured [1]. The intestinal tuberculosis was treated with rifampicin, isoniazid and pyrazinamide for 12 months with resolution of abdominal lymphadenopathy. At this time, the skin biopsy was clear of mycobacterial species....

Keywords

Whole Exome Sequencing Mycobacterium Bovis Mycobacterial Disease Intestinal Tuberculosis Mycobacterium Tuberculosis Complex 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

We would like to thank all the member of the Laboratory of Human Genetics of Infectious Diseases from both Paris and New York. A special thank you is extended to Tatiana Kochetkov for the cell culture help and to Yelena Nemirovskaya for the outstanding administrative support. The laboratory of Human Genetics of Infectious Diseases is supported by grants from the National Institute of Allergy and Infectious Diseases (NIAID) (grant n° R37AI095983 and P01AI061093), the National Center for Research Resources and the National Center for Advancing Sciences (NCATS) (grant n° 8UL1TR000043), the Rockefeller University, the St. Giles Foundation, Institut National de la Santé et de la Recherche Médicale (INSERM), University Paris Descartes, the European Research Council (ERC-2010-AdG-268777) and the French National Research Agency (ANR) (TBPATHGEN grant n°ANR-14-CE14-0007-01) and ANR under the “Investments for the future” program (grant n° ANR-10-IAHU-01).

Supplementary material

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Supplementary table 1 (DOCX 31.4 kb)
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Supplementary table 2 (DOCX 30.8 kb)
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Supplementary table 3 (DOCX 52 kb)
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ESM 1 (DOCX 42 kb)

References

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    Boisson-Dupuis S et al. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev. 2015;264(1):103–20.CrossRefPubMedGoogle Scholar
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    Yoshioka T et al. Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation. J Clin Immunol. 2013;33(7):1165–74.CrossRefPubMedGoogle Scholar
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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Alison Joanne Lee
    • 1
    Email author
  • Marcela Moncada-Vélez
    • 2
    • 3
  • Capucine Picard
    • 4
    • 5
    • 6
    • 7
  • Genevieve Llanora
    • 1
  • Chiung-Hui Huang
    • 1
  • Laurent Abel
    • 4
    • 5
  • Si Min Chan
    • 8
    • 9
  • Bee-Wah Lee
    • 1
    • 9
  • Jean-Laurent Casanova
    • 2
    • 4
    • 5
    • 6
    • 10
  • Jacinta Bustamante
    • 2
    • 4
    • 5
    • 7
  • Lynette Pei-Chi Shek
    • 1
    • 9
  • Stéphanie Boisson-Dupuis
    • 2
    • 4
    Email author
  1. 1.Division of Allergy and Immunology, Department of PaediatricsKhoo Teck Puat - National University Children’s Medical Institute (KTP-NUCMI), National University HospitalSingaporeSingapore
  2. 2.St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller BranchThe Rockefeller UniversityNew YorkUSA
  3. 3.Group of Primary Immunodeficiencies, Institute of BiologyUniversity of Antioquia UdeAMedellínColombia
  4. 4.Laboratory of Human Genetics of Infectious Diseases, Necker BranchINSERM U1163, Necker Hospital for Sick Children, INSERMParisFrance
  5. 5.Imagine InstituteParis Descartes UniversityParisFrance
  6. 6.Pediatric Hematology-Immunology UnitNecker Hospital for Sick ChildrenParisFrance
  7. 7.Center for the Study of Primary ImmunodeficienciesNecker Hospital for Sick Children, AP-HPParisFrance
  8. 8.Division of Infectious Disease, Department of PaediatricsKhoo Teck Puat - National University Children’s Medical Institute (KTP-NUCMI), National University HospitalSingaporeSingapore
  9. 9.Department of PediatricsNational University of SingaporeSingaporeSingapore
  10. 10.Howard Hughes Medical InstituteNew YorkUSA

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