A novel case of homozygous IFNAR1 deficiency with haemophagocytic lymphohistiocytosis.

Florian Gothe,Catherine F Hatton,Linh Truong,Zofia Klimova,Veronika Kanderova,Martina Fejtkova,Angela Grainger,Venetia Bigley, Joanna E. Perthen,Dipayan Mitra,Ales Janda,Eva Fronkova,Dusana Moravcikova,Sophie Hambleton,Christopher J A Duncan

Clinical Infectious Diseases（2020）

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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 haemophagocytic lymphohistiocytosis, is an emerging phenotype accompanying inborn errors of type I interferon immunity.

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