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A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

  • Mahsima Shabani
  • Soheila AleyasinEmail author
  • Sara Kashef
  • Samaneh Zoghi
  • Caroline Deswarte
  • Jean-Laurent Casanova
  • Jacinta Bustamante
  • Nima RezaeiEmail author
Letter to Editor

To the Editor

In this letter, we report a case of IFN-γR1 deficiency with a novel bi-allelic mutation in exon 6 of IFNGR1 gene and multiple bacterial, viral, and fungal infections, who had positive PCR for Mycobacterium tuberculosis in bone marrow aspirate. To the best of our knowledge, recessive complete IFN-γR1 deficiency is seldom manifested by disseminated M. tuberculosis infection.

Case Presentation

The patient was a 2-year-old boy from consanguineous parents from Iran. He had a normal development and was healthy until 2 months prior to his first admission. At first, he was admitted due to fever, diarrhea, and abdominal distention. Despite starting antibiotic therapy with Ceftriaxone, he had developed decreased appetite and malaise. Ultrasonography (US) revealed intussusception which was reduced via enema. Additional findings in US were multiple mildly enlarged para-aortic and mesenteric lymph nodes. The patient’s symptoms gradually subsided following add-on treatment with...

Notes

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Mahsima Shabani
    • 1
    • 2
  • Soheila Aleyasin
    • 3
    Email author
  • Sara Kashef
    • 3
  • Samaneh Zoghi
    • 4
    • 5
    • 6
  • Caroline Deswarte
    • 7
    • 8
  • Jean-Laurent Casanova
    • 7
    • 8
    • 9
    • 10
    • 11
  • Jacinta Bustamante
    • 7
    • 8
    • 11
    • 12
  • Nima Rezaei
    • 1
    • 2
    • 13
    Email author
  1. 1.Research Center for Immunodeficiencies, Children’s Medical CenterTehran University of Medical SciencesTehranIran
  2. 2.Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA)Universal Scientific Education and Research Network (USERN)TehranIran
  3. 3.Department of Immunology and AllergyShiraz University of Medical SciencesShirazIran
  4. 4.Ludwig Boltzmann Institute for Rare and Undiagnosed DiseasesViennaAustria
  5. 5.CeMM Research Centre for Molecular Medicine of the Austrian Academy of SciencesViennaAustria
  6. 6.Primary Immunodeficiency Diseases Network (PIDNet)Universal Scientific Education and Research Network (USERN)ViennaAustria
  7. 7.Laboratory of Human Genetics of Infectious Diseases, Necker BranchInstitut National de la Santé et de la Recherche MédicaleParisFrance
  8. 8.Paris Descartes UniversityParisFrance
  9. 9.St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller BranchThe Rockefeller UniversityNew YorkUSA
  10. 10.Howard Hughes Medical InstituteNew YorkUSA
  11. 11.Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris AP-HPNecker Hospital for Sick ChildrenParisFrance
  12. 12.Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HPNecker Hospital for Sick ChildrenParisFrance
  13. 13.Department of Immunology, School of MedicineTehran University of Medical SciencesTehranIran

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