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

• 主要な著者: Aidé Tamara Staines-Boone (著者), Caroline Deswarte (著者), Edna Venegas Montoya (著者), Luz María Sánchez-Sánchez (著者), Jorge Alberto García Campos (著者), Teodoro Muñiz-Ronquillo (著者), Jacinta Bustamante (著者), Francisco J. Espinosa-Rosales (著者), Saul Oswaldo Lugo Reyes (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2017-05-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...