Dominant negative mutations cause ADA2 deficiency in heterozygous carriers.

Human ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical phenotype which encompasses vasculopathy including livedo racemosa and lacunar strokes, as well as hemato-immunological features. Diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the gene. DADA2 carriers harbor a single pathogenic variant in and are mostly considered healthy and asymptomatic.

Effects of implementing a vaccination tool in the electronic medical record on vaccination coverage of patients with immune-mediated inflammatory diseases: a prospective cohort study.

Background: The rising incidence of immune-mediated inflammatory diseases (IMID) requires innovative management strategies, including effective vaccination. We aimed to assess the impact of an electronic medical record (EMR)-integrated vaccination tool on vaccination coverage among patients with inflammatory bowel diseases (IBD), rheumatological and dermatological conditions.

Methods: A prospective observational study compared vaccination coverage before (2018) and after (2021) implementing the module.

Flemish network on rare connective tissue diseases (CTD): patient pathways in systemic sclerosis. First steps taken.

Despite the low prevalence of each rare disease, the total burden is high. Patients with rare diseases encounter numerous barriers, including delayed diagnosis and limited access to high-quality treatments. In order to tackle these challenges, the European Commission launched the European Reference Networks (ERNs), cross-border networks of healthcare providers and patients representatives.

Autoantibodies against the NineTeen complex and U5 RNP in systemic sclerosis.

ObjectiveMultiple spliceosome components are known autoantigens in systemic sclerosis (SSc). Here we aim to identify new and characterize rare anti-spliceosomal autoantibodies in patients with SSc without known autoantibody specificity. MethodsSera that precipitated spliceosome subcomplexes, as detected by immunoprecipitation-mass spectrometry (IP-MS), were identified from a database of 106 patients with SSc without known autoantibody specificity.

Identification of new telomere- and telomerase-associated autoantigens in systemic sclerosis.

Purpose: In up to 20% of patients with systemic sclerosis (SSc) no known autoantibody specificity can be identified. Recently discovered autoantigens, such as telomeric repeat binding factor 1 (TERF1), as well as established autoantigens, like RuvBL1/2, are associated with telomere and telomerase biology. We aimed to identify new telomere- and telomerase-associated autoantigens in patients with SSc without known autoantibody specificity.

Mass spectrometry-based identification of new anti-Ly and known antisynthetase autoantibodies.

Objectives: To discover new and detect known antisynthetase autoantibodies (ASAs) through protein immunoprecipitation combined with gel-free liquid chromatography-tandem mass spectrometry (IP-MS).

Methods: IP-MS was performed using sera of individuals showing features of antisynthetase syndrome (ASyS) without (n=5) and with (n=12) previously detected ASAs, and healthy controls (n=4). New candidate aminoacyl-tRNA-synthetase (ARS) autoantigens identified through unbiased IP-MS were confirmed by IP-western blot.

Correct approach in urticarial vasculitis made early diagnosis of lupus nephritis possible: a case report.

Background: Urticarial vasculitis is a clinicopathologic entity defined by recurrent episodes of urticarial lesions that persist > 24 hours and demonstrate the histopathologic features of leukocytoclastic vasculitis. The most important prognostic feature is the presence of normo- or hypocomplementemia. In the latter, patients are much more likely to have systemic manifestations.

Detection of multiple myositis-specific autoantibodies in unique patients with idiopathic inflammatory myopathy: A single centre-experience and literature review: Systematic review.

Introduction: Myositis-specific autoantibodies (MSAs) are thought to be mutually exclusive in patients with idiopathic inflammatory myopathies (IIM) based on studies with immunoprecipitation-based (IP) detection methods. Recently, detection of multiple MSAs in unique patients is increasingly reported, but the extent of this phenomenon remains unclear.

Methods: At our centre, we reviewed results from two line immunoassays and one dot immunoassay in 145 IIM patients and 240 controls for the presence of multiple MSAs.

Proposition of standardized protocol for photodynamic therapy for vulvar lichen sclerosus.

Background: Photodynamic therapy (PDT) is an alternative treatment modality for vulvar lichen sclerosus (VLS) which is a chronic inflammatory mucosal condition. In literature, no consensus of optimal parameters of PDT for VLS is reached so far.

Objectives: The aim of this narrative review is to develop a standardized treatment protocol for PDT in VLS.

Detection of circulating anti-skin antibodies by indirect immunofluorescence and by ELISA: a comparative systematic review and meta-analysis.

Background Both enzyme-linked immunosorbent assays (ELISAs) and indirect immunofluorescence (IIF) are available for the diagnosis of autoimmune bullous diseases (AIBD). Many studies have reported on the performance of ELISAs and concluded that ELISAs could replace IIF. This study compares the diagnostic accuracy of ELISA and IIF for the detection of autoantibodies to desmoglein 1 (DSG1), desmoglein 3 (DSG3), bullous pemphigoid antigen 2 (BP180) and bullous pemphigoid antigen 1 (BP230) to support the diagnosis of pemphigus vulgaris (PV), pemphigus foliaceus (PF) and bullous pemphigoid (BP).

Single-Cell RNA Sequencing Maps Endothelial Metabolic Plasticity in Pathological Angiogenesis.

Endothelial cell (EC) metabolism is an emerging target for anti-angiogenic therapy in tumor angiogenesis and choroidal neovascularization (CNV), but little is known about individual EC metabolic transcriptomes. By single-cell RNA sequencing 28,337 murine choroidal ECs (CECs) and sprouting CNV-ECs, we constructed a taxonomy to characterize their heterogeneity. Comparison with murine lung tumor ECs (TECs) revealed congruent marker gene expression by distinct EC phenotypes across tissues and diseases, suggesting similar angiogenic mechanisms.

Anti-TIF1-γ autoantibodies: warning lights of a tumour autoantigen.

Anti-transcription intermediary factor 1 (TIF1)-γ autoantibodies are robustly linked with cancer-associated DM in adults. This review aims to give an overview of the physiological context of TIF1-γ and to determine whether there is a pathophysiological link between anti-TIF1-γ autoantibodies and the occurrence of cancer. Detection of anti-TIF1-γ autoantibodies has a high sensitivity and specificity for cancer-associated DM in adults and is therefore useful for both diagnosis and cancer risk stratification.

Scleroderma-like cutaneous lesions during treatment with paclitaxel and gemcitabine in a patient with pancreatic adenocarcinoma. Review of literature.

Background: Chemotherapy-induced skin sclerosis is generally not associated with other manifestations of systemic sclerosis. It is featured by skin sclerosis without visceral involvement (i.e.

Non-Surgical Endodontic Therapy as Treatment of Choice for a Misdiagnosed Recurring Extraoral Sinus Tract.

The purpose of this article is to present the treatment of an odontogenic cutaneous sinus tract with exuberant extraoral granulation tissue and its successful endodontic treatment and follow up with Cone-Beam Computed Tomography (CBCT). In this case, a 31-year-old woman was referred for management of a reddish nodule on her chin. Previous surgical and antibiotic intervention by the dermatologist had not resolved the problem.

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Background: Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding stimulator of interferon genes (STING) underlie a recently described type I interferonopathy called STING-associated vasculopathy with onset in infancy (SAVI).

Objectives: We sought to define the molecular and cellular pathology relating to 3 individuals variably exhibiting the core features of the SAVI phenotype including systemic inflammation, destructive skin lesions, and interstitial lung disease.

Methods: Genetic analysis, conformational studies, in vitro assays and ex vivo flow-cytometry were performed.