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

• Главные авторы: Aidé Tamara Staines-Boone (Автор), Caroline Deswarte (Автор), Edna Venegas Montoya (Автор), Luz María Sánchez-Sánchez (Автор), Jorge Alberto García Campos (Автор), Teodoro Muñiz-Ronquillo (Автор), Jacinta Bustamante (Автор), Francisco J. Espinosa-Rosales (Автор), Saul Oswaldo Lugo Reyes (Автор)
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• Опубликовано: Frontiers Media S.A., 2017-05-01T00:00:00Z.
• Предметы: article
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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 defici...