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%),…
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…
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…
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…
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…
Subnanoscale IrW oxide anodes: breaking immiscibility for high activity and durability in water electrolysis.
Pulsed-laser synthesis traps Ir in WO3, creating sub-nanometric IrWOx solid solutions with 42% of the Ir used in IrO2. The catalyst exhibits a mass activity of 270 A gIr-1 at 1.55 V and enables durable PEM water electrolysis. Strong Ir-W coupling optimizes the Ir oxidation state and boosts OER activ…
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…