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Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation

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Fig. 1

Abbreviations

AUC:

Area under the curve

CD:

Cluster of differentiation

HLH:

Hemophagocytic lymphohistiocytosis

HSCT:

Hematopoietic stem cell transplantation

IFN:

Interferon

IFNGR:

Interferon-gamma receptor

IgG:

Immunoglobulin G

IL:

Interleukin

IL12R:

Interleukin-12 receptor

MSMD:

Mendelian susceptibility to mycobacterial diseases

STAT1:

Signal transducer and activator of transcription 1

References

  1. Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004;364:2113–21.

    Article  CAS  PubMed  Google Scholar 

  2. Ramirez-Alejo N, Santos-Argumedo L. Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella. J Interf Cytokine Res. 2014;34:307–17.

    Article  CAS  Google Scholar 

  3. Cottle LE. Mendelian susceptibility to mycobacterial disease. Clin Genet. 2011;79:17–22.

    Article  CAS  PubMed  Google Scholar 

  4. Roesler J, Horwitz ME, Picard C, Bordigoni P, Davies G, Koscielniak E, et al. Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey. J Pediatr. 2004;145:806–12.

    Article  CAS  PubMed  Google Scholar 

  5. Moilanen P, Korppi M, Hovi L, Chapgier A, Feinberg J, Kong XF, et al. Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency. Pediatr Infect Dis J. 2009;28:658–60.

    Article  PubMed  Google Scholar 

  6. Rottman M, Soudais C, Vogt G, Renia L, Emile JF, Decaluwe H, et al. IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts. PLoS Med. 2008;5:e26.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. de Vor IC, van der Meulen PM, Bekker V, Verhard EM, Breuning MH, Harnisch E, et al. Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients. J Clin Immunol. 2016;36:195–203.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Satwani P, Jin Z, Duffy D, Morris E, Bhatia M, Garvin JH, et al. Transplantation-related mortality, graft failure, and survival after reduced-toxicity conditioning and allogeneic hematopoietic stem cell transplantation in 100 consecutive pediatric recipients. Biol Blood Marrow Transplant. 2013;19:552–61.

    Article  PubMed  Google Scholar 

  9. Wagner JE, Kernan NA, Steinbuch M, et al. Allogeneic sibling umbilical-cord-blood transplantation in children with malignant and non-malignant disease. Lancet. 1995;346:214–9.

    Article  CAS  PubMed  Google Scholar 

  10. Bergsten E, Horne A, Aricó M, Astigarraga I, Egeler RM, Filipovich AH, et al. Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study. Blood. 2017;130:2728–38.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Marsh RA, Haddad E. How i treat primary haemophagocytic lymphohistiocytosis. Br J Haematol. 2018;182:185–99.

    Article  PubMed  Google Scholar 

  12. Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014;383:436–48.

    Article  CAS  PubMed  Google Scholar 

  13. de Bruin AM, Demirel Ö, Hooibrink B, Brandts CH, Nolte MA. Interferon-γ impairs proliferation of hematopoietic stem cells in mice. Blood. 2013;121:3578–85.

    Article  CAS  PubMed  Google Scholar 

  14. Maciejewski J, Selleri C, Anderson S, Young NS. Fas antigen expression on CD34+ human marrow cells is induced by interferon gamma and tumor necrosis factor alpha and potentiates cytokine-mediated hematopoietic suppression in vitro. Blood. 1995;85:3183–90.

    CAS  PubMed  Google Scholar 

  15. Locatelli F, Jordan MB, Allen CE, et al. Safety and efficacy of emapalumab in pediatric patients with primary hemophagocytic lymphohistiocytosis. Blood. 2018;132:LBA–6-LBA-6.

    Google Scholar 

  16. Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med. 1996;335:1941–9.

    Article  CAS  PubMed  Google Scholar 

  17. Holland SM, Dorman SE, Kwon A, Pitha-Rowe IF, Frucht DM, Gerstberger SM, et al. Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. J Infect Dis. 1998;178:1095–104.

    Article  CAS  PubMed  Google Scholar 

  18. Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondanèche MC, Dupuis S, et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet. 1999;21:370–8.

    Article  CAS  PubMed  Google Scholar 

  19. van de Vosse E, van Dissel JT. IFN-γR1 defects: mutation update and description of the IFNGR1 variation database. Hum Mutat. 2017;38:1286–96.

    Article  CAS  PubMed  Google Scholar 

  20. Noordzij JG, Hartwig NG, Verreck FAW, de Bruin-Versteeg S, de Boer T, Dissel JTV, et al. Two patients with complete defects in interferon gamma receptor-dependent signaling. J Clin Immunol. 2007;27:490–6.

    Article  PubMed  Google Scholar 

  21. Roesler J, Kofink B, Wendisch J, Heyden S, Paul D, Friedrich W, et al. Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options. Exp Hematol. 1999;27:1368–74.

    Article  CAS  PubMed  Google Scholar 

  22. HSCT experience in patients with interferon gamma receptor deficiencies. EBMT, https://www.ebmt.org/research/studies/hsct-experience-patients-interferon-gamma-receptor-deficiencies (accessed 18 January 2019).

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Acknowledgments

The authors would like to thank the family of our patient for allowing the sharing of his clinical case. We additionally appreciate the assistance of the Clinical Immunology Research Laboratory at the Medical College of Wisconsin, specifically Dr. Jeffrey Woodliff, Dr. John Routes, and Dr. James Verbsky, in performing the diagnostic functional studies that were crucial in characterizing the patient’s defect.

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Authors and Affiliations

  1. Department of Pediatrics and Communicable Diseases, Division of Pediatric Hematology/Oncology, University of Michigan, 1500 E. Medical Center Drive, D4202 Medical Professional Building, Ann Arbor, MI, 48109, USA

    Thomas F. Michniacki, Kelly J. Walkovich & Mark T. Vander Lugt

  2. Department of Pharmacy, University of Michigan, Ann Arbor, MI, USA

    David G. Frame

Authors
  1. Thomas F. Michniacki
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  2. Kelly J. Walkovich
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  3. David G. Frame
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  4. Mark T. Vander Lugt
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Contributions

Dr. Michniacki drafted the manuscript. Drs. Vander Lugt, Frame, and Walkovich assisted in reviewing and editing the manuscript.

Corresponding author

Correspondence to Mark T. Vander Lugt.

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The authors declare that they have no conflicts of interest.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

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Michniacki, T.F., Walkovich, K.J., Frame, D.G. et al. Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation. J Clin Immunol 39, 257–260 (2019). https://doi.org/10.1007/s10875-019-00621-8

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  • DOI: https://doi.org/10.1007/s10875-019-00621-8

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