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

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • 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
  • Hôpital de la Salpêtrière
  • Université Paris Nanterre
  • University of Brescia
  • National Institutes of Health (NIH)
  • Universitätsklinikum Freiburg
  • University of Antioquia
  • University of Manitoba
  • Selcuk University
  • Tehran University of Medical Sciences
  • Akademiska sjukhuset i Uppsala
  • Karolinska Institutet
  • Hospital for Sick Children
  • University of Western Sydney and Campbelltown Hospital
  • The Ohio State University College of Medicine
  • Universitätsklinikum Münster
  • Selcuk University Faculty of Medicine
  • Hospital de Niños Roberto del Río
  • The Alfred Hospital
  • Strasbourg University Hospital
  • Albert-Ludwigs-Universität Freiburg
  • Université Paris Cité
  • Institut des maladies génétiques Imagine
  • 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

OriginalspracheEnglisch
Seiten (von - bis)803-813
Seitenumfang11
FachzeitschriftNature
Jahrgang623
Ausgabenummer7988
PublikationsstatusVeröffentlicht - Nov. 2023
Peer-Review-StatusJa

Externe IDs

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

Schlagworte

Ziele für nachhaltige Entwicklung

ASJC Scopus Sachgebiete

Schlagwörter

  • 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

Bibliotheksschlagworte