Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature

Frontiers in Pediatrics
Aidé Tamara Staines-BooneSaul Oswaldo Lugo Reyes

Abstract

Mutations in the genes coding for cytokines, receptors, second messengers, and transcription factors of interferon gamma (IFN-γ) immunity cause Mendelian susceptibility to mycobacterial disease (MSMD). We report the case of a 7-year-old male patient with partial dominant (PD) IFN-γ receptor 1 deficiency who had suffered from multifocal osteomyelitis attributable to bacille Calmette-Guérin vaccination since the age of 18 months. He developed hemophagocytic lymphohistiocytosis (HLH), a hyper-inflammatory complication, and died with multiorgan dysfunction, despite having been diagnosed and treated relatively early. Patients with PD IFN-γR1 deficiency usually have good prognosis and might respond to human recombinant subcutaneous IFN-γ. Several monogenic congenital defects have been linked to HLH, a catastrophic "cytokine storm" that is usually ascribed to lymphocyte dysfunction and thought to be triggered by interferon gamma. This is the sixth patient with both MSMD and HLH of whom we are aware. The fact that patients with macrophages that cannot respond to IFN-γ still develop HLH, bring these assumptions into question.

References

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Citations

Sep 29, 2018·Immunology and Cell Biology·Jérémie RosainJacinta Bustamante
Nov 21, 2019·International Journal of Immunogenetics·Xing-Qi ZhaoBin Yu
Dec 12, 2018·Pediatrics International : Official Journal of the Japan Pediatric Society·Kensuke ShojiIsao Miyairi
Aug 29, 2020·Journal of Clinical Immunology·Boaz PaltererPaola Parronchi
Apr 16, 2020·Genes and Immunity·Grant S Schulert, Randy Q Cron
Jan 2, 2021·Seminars in Arthritis and Rheumatism·Shunli TangHong Fang
Jun 29, 2021·The Journal of Allergy and Clinical Immunology·Miyuki TsumuraSatoshi Okada
Jun 30, 2021·The Journal of Immunology : Official Journal of the American Association of Immunologists·Tom Le VoyerJacinta Bustamante
Jul 1, 2021·Acta Paediatrica·Marie Meeths, Yenan T Bryceson
Jul 31, 2021·International Journal of Hematology·Mizuki AsakoShuji Ueda
Aug 19, 2021·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Muhammad Bilal KhalidLuigi D Notarangelo

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Methods Mentioned

BETA
biopsies
biopsy
X-ray

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