Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • University of California at Irvine
  • Uppsala University
  • Garvan Institute of Medical Research
  • University of California at San Francisco
  • The Rockefeller University
  • Ondokuz Mayıs University Faculty of Medicine
  • Pitié-Salpêtrière Hospital
  • Université Paris Nanterre
  • University of Brescia
  • National Institutes of Health (NIH)
  • University Medical Center Freiburg
  • University of Antioquia
  • University of Manitoba
  • Selcuk University
  • Tehran University of Medical Sciences
  • Uppsala University Hospital
  • Karolinska Institutet
  • Hospital for Sick Children
  • University of Western Sydney and Campbelltown Hospital
  • The Ohio State University College of Medicine
  • University Hospital Münster
  • Selcuk University Faculty of Medicine
  • Hospital de Niños Roberto del Río
  • The Alfred Hospital
  • Strasbourg University Hospital
  • University of Freiburg
  • Université Paris Cité
  • Imagine Institute
  • University of Toronto

Abstract

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.

Details

Original languageEnglish
Pages (from-to)803-813
Number of pages11
JournalNature
Volume623
Issue number7988
Publication statusPublished - Nov 2023
Peer-reviewedYes

External IDs

Scopus 85176091832
ORCID /0009-0003-6519-0482/work/147674511

Keywords

Research priority areas of TU Dresden

Sustainable Development Goals

ASJC Scopus subject areas

Keywords

  • Autoantibodies/immunology, COVID-19/genetics, Gain of Function Mutation, Genetic Predisposition to Disease, Heterozygote, Humans, I-kappa B Proteins/deficiency, Interferon Type I/antagonists & inhibitors, Loss of Function Mutation, NF-kappa B p52 Subunit/deficiency, NF-kappa B/deficiency, Pneumonia, Viral/genetics, Thymus Gland/abnormalities, Thyroid Epithelial Cells/metabolism, AIRE Protein, NF-kappaB-Inducing Kinase

Library keywords