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

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2022 Jan 07

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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. © The Author(s) 2020. Published by Oxford University Press for the Infectious Diseases Society of America.

Citation

Florian Gothe, Catherine F Hatton, Linh Truong, Zofia Klimova, Veronika Kanderova, Martina Fejtkova, Angela Grainger, Venetia Bigley, Joanna Perthen, Dipayan Mitra, Ales Janda, Eva Fronkova, Dusana Moravcikova, Sophie Hambleton, Christopher J A Duncan. A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 2022 Jan 07;74(1):136-139