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A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou +18 more
wiley +1 more source

Acute myeloid leukemia in a young male patient with Behçet’s disease presenting with febrile neutropenia

Rheumatology, 2019
Behçet’s disease is a multi-systemic vasculitis which is characterized by recurrent oral and genital ulceration with positive pathergy test. These features may also be seen in various hematological malignancies. In patients with leukemia who present with
Ashish Sharma +4 more
doaj +1 more source

Upadacitinib Restrains the Pathogenic Fitness of CD4+ T Cells and Aberrant B Cell Programming in Optic Neuritis

Advanced Science, EarlyView.
Single‐cell profiling and functional perturbation reveal coordinated JAK1‐pSTAT3 downstream programs in optic neuritis, including MCL1‐dependent fitness of pathogenic CD4+ Tem cells and glycolysis‐linked, cholesterol‐sensitive B‐cell responses associated with RORA. Upadacitinib disrupts this reciprocal T‐B‐cell circuit and alleviates neuroinflammation,
Gengchen Jiang +12 more
wiley +1 more source

Case report: A case of neuro-Behçet's syndrome presenting as brain stem mass lesions

Frontiers in Neurology, 2023
Neuro-Behçet's syndrome, a severe and rare manifestation of Behçet's disease (BD), can be misdiagnosed due to its challenging clinical presentation.
Folusakin Ayoade +6 more
doaj +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger +28 more
wiley +1 more source

Upper Gastrointestinal Involvement in Behcet’s Disease

The Korean Journal of Gastroenterology
Background/Aims: Behcet's disease is an idiopathic, chronic, multisystemic vasculitis characterized by recurrent oral and genital ulcers, ophthalmologic inflammation, and skin lesions.
Hogyung Jun +3 more
doaj +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

Arthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez +295 more
wiley +1 more source

Antistreptolysin O Levels in Patients with Behcet’s Disease

Eurasian Journal of Medicine, 2019
Objective: Behcet’s disease is a multisystem inflammatory disorder, and its etiology has not been defined clearly yet. In this study, we aimed to investigate the antistreptolysin O (ASO) levels of patients with Behcet’s disease. Materials and Methods:
Hulya Uzkeser +4 more
doaj +1 more source

Updated COVID‐19 Vaccines and Health Outcomes in Patients With Autoimmune Rheumatic Conditions

Arthritis &Rheumatology, EarlyView.
Objective We aimed to assess the association between COVID‐19 vaccination status and COVID‐19‐related hospital admissions, need for mechanical ventilation or extracorporeal membrane oxygenation (ECMO), and death in people with autoimmune rheumatic conditions. Methods We conducted a retrospective cohort study using National Clinical Cohort Collaborative
Lesley E. Jackson +127 more
wiley +1 more source

Complement Activation Linked to Type II Interferon Signaling in Still Disease

Arthritis &Rheumatology, EarlyView.
Objective Still disease (SD) is an autoinflammatory syndrome characterized by innate immune dysregulation. Although complement can drive inflammation, its involvement in SD remains to be defined. Thus, we aimed to assess complement activation in SD. Methods Complement was assessed using transcriptomic, proteomic, and in vitro approaches. RNA sequencing
Freya M. C. H. Huijsmans +115 more
wiley +1 more source

behçet's disease
behçet’s disease
inflammation

behcet syndrome
behcet’s disease