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

Autor: Zofia Klimova, Linh Truong, Martina Fejtkova, Venetia Bigley, Dusana Moravcikova, Catherine F Hatton, Dipayan Mitra, Angela Grainger, Florian Gothe, Veronika Kanderova, Sophie Hambleton, Ales Janda, Joanna E. Perthen, Christopher J A Duncan, Eva Fronkova
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
ISSN: 1537-6591
1058-4838
Popis: 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.
Databáze: OpenAIRE