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

卷:5

Edna Venegas Montoya¹  Francisco J. Espinosa-Rosales¹  Saul Oswaldo Lugo Reyes¹  Aidé Tamara Staines-Boone²  Jorge Alberto García Campos³  Caroline Deswarte⁴  Jacinta Bustamante⁴  Teodoro Muñiz-Ronquillo⁵  Luz María Sánchez-Sánchez⁶ 

[1] Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico;

[2] Immunology Department, UMAE 25 IMSS, Monterrey, Mexico;

[3] Infectious Disease Department, UMAE 25 IMSS, Monterrey, Mexico;

[4] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut Imagine, Paris, France;

[5] Oncology Department, UMAE 25 IMSS, Monterrey, Mexico;

[6] Pediatrics Department, UMAE 25 IMSS, Monterrey, Mexico;

关键词: interferon gamma receptor 1 deficiency;    Mendelian susceptibility to mycobacterial disease;    bacille Calmette–Guérin vaccine;    osteomyelitis;    hemophagocytic lymphohistiocytosis;    human recombinant interferon gamma;   

DOI  :  10.3389/fped.2017.00075

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown