ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype.
Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease with diverse phenotypes. We describe the genetics, phenotypes, and treatment of n = 48 DADA2 patients from Germany, Austria, and Switzerland. We report a high incidence of hematological (83%) and immunological features (85%),…
Surgical versus medical management of PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis): a systematic review and network meta-analysis.
Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) syndrome is the most common autoinflammatory periodic fever disorder of childhood. This study aimed to compare the effectiveness and safety of surgical and medical treatments for PFAPA using a systematic review and network meta-a…
Renal AA amyloidosis associated with a TRAPS-like autoinflammatory phenotype and TNFRSF1A R92Q variant in adulthood.
Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) is a rare monogenic autoinflammatory disorder typically presenting with recurrent febrile attacks. However, adult-onset cases without classical inflammatory symptoms may remain unrecognized and can present with organ-dominant…
Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory disease of the central nervous system (CNS) characterized by recurrent optic neuritis and myelitis. Blood-brain barrier (BBB) disruption is a key pathological feature of NMOSD, but the role of neutrophil extracellular traps…
VEXAS syndrome unmasked from relapsing polychondritis and infection mimicry: a case-based review.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a UBA1-driven hemato-inflammatory disorder that mimics relapsing polychondritis, vasculitis, and myelodysplastic syndromes, often causing diagnostic delay. We describe a case presenting with relapsing polychondritis-like fe…
Early Tonsillectomy for Dual Remission of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome and Immunoglobulin A Nephropathy: A Case Report.
Despite sharing tonsillar immune dysregulation as a common pathogenic mechanism, concurrent presentation of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome with immunoglobulin A (IgA) nephropathy (IgAN) remains exceptionally rare, with only 1 previous case reported in…
Nailfold Videocapillaroscopy in Pediatric Rheumatology: Established Roles, Emerging Applications, and Future Perspectives.
Nailfold videocapillaroscopy (NVC) provides direct, non-invasive access to the peripheral microcirculation and has become a central tool in adult rheumatology. Its primary clinical value lies in the evaluation of patients presenting with signs of Raynaud phenomenon (RP) and scleroderma-spectrum diso…