Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
- Université Paris Cité
- University of California at Irvine
- Uppsala University
- Garvan Institute of Medical Research
- University of California at San Francisco
- Rockefeller University
- Ondokuz Mayis University
- Pitié-Salpêtrière Hospital
- Université Paris Nanterre
- Imagine Institute
- University of Brescia
- University Medical Center Freiburg
- University of Freiburg
- Universidad de Antioquia
- University of Manitoba
- Selcuk University
- Tehran University of Medical Sciences
- Uppsala University Hospital
- Karolinska Institutet
- Hospital for Sick Children
- University of Toronto
- Campbelltown Hospital
- The Ohio State University College of Medicine
- University Hospital Münster
- Hospital de Niños Roberto del Río
- Alfred Health
- University of Strasbourg
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 language | English |
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Pages (from-to) | 803-813 |
Number of pages | 11 |
Journal | Nature |
Volume | 623 |
Issue number | 7988 |
Publication status | Published - 23 Nov 2023 |
Peer-reviewed | Yes |
External IDs
Scopus | 85176091832 |
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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