Helen Lachmann

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BACKGROUND Deposition of amyloid fibrils derived from circulating acute-phase reactant serum amyloid A protein (SAA) causes systemic AA amyloidosis, a serious complication of many chronic inflammatory disorders. Little is known about the natural history of AA amyloidosis or its response to treatment. METHODS We evaluated clinical features, organ function,(More)
BACKGROUND The cryopyrin-associated periodic syndrome (CAPS) is a rare inherited inflammatory disease associated with overproduction of interleukin-1. Canakinumab is a human anti-interleukin-1beta monoclonal antibody. METHODS We performed a three-part, 48-week, double-blind, placebo-controlled, randomized withdrawal study of canakinumab in patients with(More)
OBJECTIVE Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with the autoinflammatory diseases Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset multisystem inflammatory disease (NOMID), which is also known as chronic infantile neurologic, cutaneous, articular (CINCA) syndrome. Molecular studies suggest(More)
OBJECTIVE To prospectively monitor inflammatory activity over a prolonged period in a cohort of Turkish patients with FMF, their healthy relatives and healthy controls and to relate this to their MEFV genotypes. METHODS 43 patients with FMF and 75 of their asymptomatic relatives underwent fortnightly assessments and venesection for measurement of CRP and(More)
OBJECTIVE Familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, fever, arthralgia, and in some subjects, AA amyloidosis, and have been mapped to chromosome 1q44. Sensorineural deafness in MWS, and provocation of symptoms by cold in FCU, are distinctive features. This study was(More)
BACKGROUND Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A alpha-chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential diagnosis of systemic amyloidosis unless there is a family history. METHODS We studied 350 patients with(More)
The investigation of interleukin 1beta (IL-1beta) in human inflammatory diseases is hampered by the fact that it is virtually undetectable in human plasma. We demonstrate that by administering the anti-human IL-1beta antibody canakinumab (ACZ885) to humans, the resulting formation of IL-1beta-antibody complexes allowed the detection of in vivo-produced(More)
OBJECTIVE To investigate the prevalence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among outpatients presenting with recurrent fevers and clinical features consistent with TRAPS. METHODS Mutational screening was performed in affected members of 18 families in which multiple members had symptoms compatible with TRAPS and in 176(More)
2583 2. Lopez-Castilla JD, Cano M, Munoz M, et al. Massive bronchoalveolar aspiration of barium sulfate during a radiologic study of the upper digestive tract. Pediatr Pulmonol 1997;24:126-7. 3. Pracy JP, Montgomery PQ, Reading N. Acute pneumonitis caused by low density barium sulphate aspiration. J Laryngol Otol 1993;107:347-8. 4. Ginai AZ, ten Kate FJ,(More)
OBJECTIVE To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever(More)