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

Florian Gothe; Catherine F Hatton; Linh Truong; Zofia Klimova; Veronika Kanderova; Martina Fejtkova; Angela Grainger; Venetia Bigley; Joanna Perthen; Dipayan Mitra; Ales Janda; Eva Fronkova; Dusana Moravcikova; Sophie Hambleton; Christopher J A Duncan

doi:10.1093/cid/ciaa1790

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

Clin Infect Dis. 2022 Jan 7;74(1):136-139. doi: 10.1093/cid/ciaa1790.

Authors

Florian Gothe^{1

2}, Catherine F Hatton¹, Linh Truong¹, Zofia Klimova³, Veronika Kanderova⁴, Martina Fejtkova⁴, Angela Grainger¹, Venetia Bigley^{1

5}, Joanna Perthen⁶, Dipayan Mitra⁶, Ales Janda⁷, Eva Fronkova⁴, Dusana Moravcikova³, Sophie Hambleton^{1

8}, Christopher J A Duncan^{1

9}

Affiliations

¹ Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
² Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany.
³ Banská Bystrica Children`s University Hospital, Banská Bystrica, Slovakia.
⁴ Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
⁵ Northern Centre for Bone Marrow Transplant, Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
⁶ Department of Neuroradiology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
⁷ Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Germany.
⁸ Children's Immunology Service, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
⁹ Infection and Tropical Medicine, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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.

Keywords: HLH; IFNAR1; inborn error of immunity; type I interferon.

Publication types

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

MeSH terms

Homozygote
Humans
Interferon-alpha / therapeutic use
Lymphohistiocytosis, Hemophagocytic* / genetics
Receptor, Interferon alpha-beta / genetics

Substances

IFNAR1 protein, human
Interferon-alpha
Receptor, Interferon alpha-beta

Abstract

Publication types

MeSH terms

Substances

Grants and funding