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

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 lymphohistiocytosi...

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Autores principales: Gothe, Florian, Hatton, Catherine F, Truong, Linh, Klimova, Zofia, Kanderova, Veronika, Fejtkova, Martina, Grainger, Angela, Bigley, Venetia, Perthen, Joanna, Mitra, Dipayan, Janda, Ales, Fronkova, Eva, Moravcikova, Dusana, Hambleton, Sophie, Duncan, Christopher J A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752251/
https://www.ncbi.nlm.nih.gov/pubmed/33252644
http://dx.doi.org/10.1093/cid/ciaa1790
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author Gothe, Florian
Hatton, Catherine F
Truong, Linh
Klimova, Zofia
Kanderova, Veronika
Fejtkova, Martina
Grainger, Angela
Bigley, Venetia
Perthen, Joanna
Mitra, Dipayan
Janda, Ales
Fronkova, Eva
Moravcikova, Dusana
Hambleton, Sophie
Duncan, Christopher J A
author_facet Gothe, Florian
Hatton, Catherine F
Truong, Linh
Klimova, Zofia
Kanderova, Veronika
Fejtkova, Martina
Grainger, Angela
Bigley, Venetia
Perthen, Joanna
Mitra, Dipayan
Janda, Ales
Fronkova, Eva
Moravcikova, Dusana
Hambleton, Sophie
Duncan, Christopher J A
author_sort Gothe, Florian
collection PubMed
description 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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spelling pubmed-87522512022-01-12 A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis Gothe, Florian Hatton, Catherine F Truong, Linh Klimova, Zofia Kanderova, Veronika Fejtkova, Martina Grainger, Angela Bigley, Venetia Perthen, Joanna Mitra, Dipayan Janda, Ales Fronkova, Eva Moravcikova, Dusana Hambleton, Sophie Duncan, Christopher J A Clin Infect Dis Brief Report 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. Oxford University Press 2020-11-30 /pmc/articles/PMC8752251/ /pubmed/33252644 http://dx.doi.org/10.1093/cid/ciaa1790 Text en © The Author(s) 2020. Published by Oxford University Press for the Infectious Diseases Society of America. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Report
Gothe, Florian
Hatton, Catherine F
Truong, Linh
Klimova, Zofia
Kanderova, Veronika
Fejtkova, Martina
Grainger, Angela
Bigley, Venetia
Perthen, Joanna
Mitra, Dipayan
Janda, Ales
Fronkova, Eva
Moravcikova, Dusana
Hambleton, Sophie
Duncan, Christopher J A
A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
title A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
title_full A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
title_fullStr A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
title_full_unstemmed A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
title_short A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
title_sort novel case of homozygous interferon alpha/beta receptor alpha chain (ifnar1) deficiency with hemophagocytic lymphohistiocytosis
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752251/
https://www.ncbi.nlm.nih.gov/pubmed/33252644
http://dx.doi.org/10.1093/cid/ciaa1790
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