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

Lookup NU author(s): Dr Florian Gothe, Catherine Hatton, Angela Grainger, Dr Venetia BigleyORCiD, Dr Joanna Perthen, Dr Dipayan Mitra, Professor Sophie HambletonORCiD, Dr Christopher DuncanORCiD



This is the authors' accepted manuscript of an article that has been published in its final definitive form by Oxford University Press, 2022.

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

Publication metadata

Author(s): Gothe F, Hatton CF, Truong L, Klimova Z, Kanderova V, Fejtkova M, Grainger A, Bigley V, Perthen J, Mitra D, Janda A, Fronkova E, Maravicikova D, Hambleton S, Duncan CJA

Publication type: Article

Publication status: Published

Journal: Clinical Infectious Diseases

Year: 2022

Volume: 74

Issue: 1

Pages: 136-139

Print publication date: 01/01/2022

Online publication date: 30/11/2020

Acceptance date: 30/11/2020

Date deposited: 06/02/2021

ISSN (print): 1058-4838

ISSN (electronic): 1537-6591

Publisher: Oxford University Press


DOI: 10.1093/cid/ciaa1790

PubMed id: 33252644


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