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 Kanderova,Martina Fejtkova,Angela Grainger,Venetia Bigley, Joanna Perthen,Dipayan Mitra,Ales Janda,Eva Fronkova,Dusana Moravcikova,Sophie Hambleton,Christopher J A Duncan

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America（2022）

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摘要

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.

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