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

Clinical Infectious Diseases (2022) 74(1) 136-139
DOI: 10.1093/cid/ciaa1790
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Abstract

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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Gothe, F., Hatton, C. F., Truong, L., Klimova, Z., Kanderova, V., Fejtkova, M., … Duncan, C. J. A. (2022). A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis. Clinical Infectious Diseases, 74(1), 136–139. https://doi.org/10.1093/cid/ciaa1790

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