Open AccessA Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
Author(s) -
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
Publication year - 2020
Publication title -
clinical infectious diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.44
H-Index - 336
eISSN - 1537-6591
pISSN - 1058-4838
DOI - 10.1093/cid/ciaa1790
Subject(s) - hemophagocytic lymphohistiocytosis , medicine , alpha (finance) , alpha interferon , alpha chain , beta (programming language) , interferon type i , immunology , receptor , interferon , surgery , disease , programming language , construct validity , computer science , patient satisfaction
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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