A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis

Gothe, Florian; Hatton, Catherine F.; Truong, Linh; Klimova, Zofia; Kanderova, Veronika; Fejtkova, Martina; Grainger, Angela; Bigley, Venetia; Perthen, Joanna; Mitra, Dipayan; Janda, Ales; Fronkova, Eva; Moravcikova, Dusana; Hambleton, Sophie und Duncan, Christopher J. A. (2021): A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis. In: Clinical Infectious Diseases, Bd. 74, Nr. 1: S. 136-139

Abstract

We present a case of complete deficiency of the interferon alpha/beta receptor alpha chain (IFNAR1) in a child with fatal systemic hyperinflammation, apparently provoked by live-attenuated viral vaccination. Such pathologic hyperinflammation, fulfilling criteria for hemophagocytic lymphohistiocytosis, is an emerging phenotype accompanying inborn errors of type I interferon immunity.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 1058-4838
• Sprache: Englisch