A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
Florian Gothe, Catherine F. Hatton, Linh Truong, Zofia Klimova, Veronika Kanderová, Martina Fejtková, Angela Grainger, Venetia Bigley, Joanna E. Perthen, Dipayan Mitra, Aleš Janda, Eva Froňková, Dusana Moravcikova, Sophie Hambleton, C.J. Duncan
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.
Topics & Concepts
Hemophagocytic lymphohistiocytosisMedicineAlpha (finance)Alpha interferonAlpha chainBETA (programming language)Interferon type IImmunologyReceptorInterferonInternal medicineSurgeryDiseaseProgramming languageConstruct validityComputer sciencePatient satisfactionImmunodeficiency and Autoimmune DisordersAutoimmune and Inflammatory Disorders ResearchImmune Cell Function and Interaction