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Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
J Exp Med
February 2025
Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Imagine Institute, University Paris Cité, Paris, France.
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.
View Article and Find Full Text PDFCitrullinated IGF2BP1 promotes rheumatoid synovial aggression via increasing the mRNA stability of SEMA3D.
Commun Biol
January 2025
Department of Medicinal Chemistry, School of Pharmaceutical Sciences, Wenzhou Medical University, Wenzhou, China.
Protein citrullination modification plays a pivotal role in the pathogenesis of rheumatoid arthritis (RA), and anti-citrullinated protein antibodies (ACPAs) are extensively employed for clinical diagnosis of RA. However, there remains limited understanding regarding specific citrullinated proteins and their implications in the progression of RA. In this study, we screen and verify insulin-like growth factor-2 mRNA binding protein 1 (IGF2BP1) as a novel citrullinated protein with significantly elevated citrullinated level in RA.
View Article and Find Full Text PDFDysregulated autoantibodies targeting AGTR1 are associated with the accumulation of COVID-19 symptoms.
NPJ Syst Biol Appl
January 2025
BIH Center for Regenerative Therapies (BCRT), Julius Wolff Institute (JWI), and Berlin Institute of Health (BIH); all Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), 10117, Berlin, Germany.
Coronavirus disease 2019 (COVID-19) presents a wide spectrum of symptoms, the causes of which remain poorly understood. This study explored the associations between autoantibodies (AABs), particularly those targeting G protein-coupled receptors (GPCRs) and renin‒angiotensin system (RAS) molecules, and the clinical manifestations of COVID-19. Using a cross-sectional analysis of 244 individuals, we applied multivariate analysis of variance, principal component analysis, and multinomial regression to examine the relationships between AAB levels and key symptoms.
View Article and Find Full Text PDFA case of Sjögren's syndrome with selective anion exchanger 1 defect causing distal renal tubular acidosis.
Pediatr Nephrol
January 2025
Division of Nephrology, Department of Pediatrics, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan.
Distal renal tubular acidosis (dRTA) is a significant clinical expression of Sjögren's syndrome (SS). While SS-related dRTA is traditionally linked to impaired H-ATPase, we report a unique case demonstrating selectively decreased anion exchanger 1 (AE1) expression with preserved H-ATPase expression. A 16-year-old girl with SS presented with muscle weakness, difficulty in ambulation, and severe hypokalemia.
View Article and Find Full Text PDFAutoantibodies against phosphatidylserine and DNA during canine Dirofilaria immitis infection.
Vet Parasitol
January 2025
Biological Sciences Department, New York City College of Technology, City University of New York, Brooklyn, NY, United States; Biology PhD Program, CUNY Graduate Center, New York, NY, United States. Electronic address:
Heartworm infection caused by Dirofilaria immitis induces a devastating disease that greatly affects the global canine population. The mechanism leading to heartworm pathology has been attributed to be mostly by mechanical damage of the worm to the dog´s vascular system and immune-mediated, but the latter processes are not completely understood. Autoantibodies targeting host molecules such as lipids and nucleic acids have been described with pathological roles during malaria and COVID-19 and mediating anemia and thrombocytopenia.
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