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

F. Gothe, CF. Hatton, L. Truong, Z. Klimova, V. Kanderova, M. Fejtkova, A. Grainger, V. Bigley, J. Perthen, D. Mitra, A. Janda, E. Fronkova, D. Moravcikova, S. Hambleton, CJA. Duncan

. 2022 ; 74 (1) : 136-139. [pub] 20220107

Language English Country United States

Document type Case Reports, Editorial, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc22011370

Grant support
207556/Z/17/Z Wellcome Trust - United Kingdom
NV19-05-00332 Ministry of Health of the Czech Republic
MR/N013840/1 Bubble Foundation
Wellcome Trust - United Kingdom
GO2955/1-1 Deutsche Forschungsgemeinschaft
NV19-05-00332 Medical Research Council - United Kingdom

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.

References provided by Crossref.org

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$a 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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