Haploinsufficiency of A20 (HA20) is a primary immune regulation disease caused by heterozygous loss-of-function variants in TNFAIP3, resulting in unchecked inflammatory signaling. HA20 is a highly heterogeneous disorder with overlapping features of autoinflammation, autoimmunity, immunodeficiency, a…
Clinical and Demographic Features of Behçet's Disease: A Retrospective Analysis of 4007 Patients from a Single Center in Turkey.
Behçet's disease is a multisystem inflammatory condition that can lead to severe vascular and neurological complications. To evaluate the demographic and clinical characteristics of a large single-centre Behçet's disease cohort and to investigate the associations of sex, age at onset, and…
Interface Between Ophthalmology and Rheumatology in Uveitis and Retinal Vasculitis in Adult Patients, When Does Who Need Whom?
BACKGROUND: There is a significant interface between ophthalmology and rheumatology, particularly in uveitis and retinal vasculitis. This will be described in detail here. RESULTS: Analyses of uveitis consultations from university centres in Austria and Germany show that approximately 30% of anterio…
Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Behçet-like Autoinflammatory Syndrome Type 3: A Case Report.
To perform genetic diagnosis and pedigree analysis in a case of autosomal dominant Familial Behçet-like Autoinflammatory Syndrome type 3 (AIFBL3) caused by a novel RELA variant. Peripheral blood samples collected from the proband and parents underwent conventional genetic screening, next-genera…
New insights into the management of Behçet syndrome.
Behçet syndrome (BS) is a multisystem variable-vessel vasculitis characterized by recurrent mucocutaneous manifestations and severe organ involvement affecting the eyes, blood vessels, nervous system, and gastrointestinal tract. Although therapeutic advances over the past two decades have signi…
Behçet's disease presenting with intracardiac thrombus and pulmonary thromboembolism in a young Ethiopian male: a case report.
Behçet's disease (BD) is a rare, chronic, relapsing multisystem vasculitis with diverse manifestations, including mucocutaneous, ocular, neurological, and vascular involvement. Intracardiac thrombus is a rare manifestation of BD and can result in severe complications such as pulmonary thromboem…
Characterizing Manifestations of Optical Coherence Tomography in Pulmonary Arterial Lesions.
Effective imaging is lacking for intravascular lesions in pulmonary vascular diseases. Optical coherence tomography (OCT) offers micron-level resolution, enabling improved diagnosis and treatment guidance. This study aimed to evaluate pulmonary arterial lesions using OCT. This retrospective study re…