HAROLD M HOFFMAN
Affiliation: University of California
- Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic feverH M Hoffman
Department of Medicine, University of California at San Diego, La Jolla, 92093-0635, USA
J Allergy Clin Immunol 108:615-20. 2001..On the basis of the analysis of genotype and phenotype of FCAS, we formulated clinical diagnostic criteria that can be used to distinguish FCAS from other hereditary periodic fever syndromes...
- Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registryHugh Tilson
Novartis Pharma AG, Basel, Switzerland
Orphanet J Rare Dis 8:139. 2013..Creative approaches to observational methodology are needed, harnessing novel registry strategies to ensure Health Care Provider reporting and patient monitoring...
- Long-term efficacy and safety profile of rilonacept in the treatment of cryopryin-associated periodic syndromes: results of a 72-week open-label extension studyHal M Hoffman
University of California San Diego, La Jolla, USA
Clin Ther 34:2091-103. 2012..The interleukin-1 inhibitor rilonacept has been shown to be well-tolerated and effective in preventing CAPS symptoms in 2 pivotal studies...
- Inflammasome and IL-1beta-mediated disordersHal M Hoffman
Division of Allergy and Immunology, University of California at San Diego and Rady Children s Hospital of San Diego, La Jolla, CA 92093, USA
Curr Allergy Asthma Rep 10:229-35. 2010..However, many other diseases are likely to be mediated by the inflammasome and interleukin-1beta, providing additional targets in the future...
- Therapy of autoinflammatory syndromesHal M Hoffman
Department of Pediatrics and Medicine, Division of Allergy, Immunology, and Rheumatology, University of California at San Diego, School of Medicine, 9500 Gilman Dr, La Jolla, CA 92093 0635, USA
J Allergy Clin Immunol 124:1129-38; quiz 1139-40. 2009..This article reviews the general approach to the therapy of autoinflammatory diseases, focusing on current approved therapies and novel approaches that might be used in the future...
- Recurrent febrile syndromes: what a rheumatologist needs to knowHal M Hoffman
University of California at San Diego, La Jolla, CA 92093, USA
Nat Rev Rheumatol 5:249-56. 2009..NSAIDs, colchicine and corticosteroids have roles in the treatment of some of these disorders, but biologic drugs that target interleukin-1beta are emerging as consistently effective therapies...
- Rilonacept for the treatment of cryopyrin-associated periodic syndromes (CAPS)Hal M Hoffman
University of California at San Diego, Division of Rheumatology and Allergy Immunology, Mail Code 0635, 9500 Gilman Drive, La Jolla, CA 92093 0635, USA
Expert Opin Biol Ther 9:519-31. 2009..Until recently, there was no effective treatment for CAPS, but identification of the genetic basis of CAPS highlighted the pathogenic role of IL-1beta...
- Cryopyrin-associated periodic syndromes: development of a patient-reported outcomes instrument to assess the pattern and severity of clinical disease activityHal M Hoffman
University of California at San Diego, La Jolla, CA 92093 0635, USA
Curr Med Res Opin 24:2531-43. 2008..Development of an instrument for characterization of symptom patterns and severity in patients with cryopyrin-associated periodic syndromes (CAPS)...
- Hereditary immunologic disorders caused by pyrin and cryopyrinHal M Hoffman
Division of Rheumatology, Allergy, and Immunology, University of California at San Diego Medical School, 9500 Gilman Drive, La Jolla, CA 92093 0635, USA
Curr Allergy Asthma Rep 7:323-30. 2007..These advances have also resulted in direct improvement in diagnosis and therapy for autoinflammatory disorders such as the cryopyrinopathies and familial Mediterranean fever and have implications for more common inflammatory diseases...
- Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonistHal M Hoffman
Division of Rheumatology, Allergy, and Immunology, University of California at San Diego School of Medicine, La Jolla, CA 92093 0635, USA
Lancet 364:1779-85. 2004..The genetic basis of this disease has been elucidated. Cryopyrin, the protein that is altered in FCAS, is one of the adaptor proteins that activate caspase 1, resulting in release of interleukin 1...
- Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353PHal M Hoffman
Division of Rheumatology, Allergy, and Immunology, University of California at San Diego, 9500 Gilman Drive, La Jolla, California 92093 0635, USA
Hum Genet 112:209-16. 2003..We also report a comprehensive list of intragenic single nucleotide polymorphisms. The data provided here will assist others researching the 1q44 region and will aid clinicians in the diagnosis of FCAS...
- Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndromeH M Hoffman
Ludwig Institute for Cancer Research, University of California School of Medicine, San Diego, California, USA
Nat Genet 29:301-5. 2001....
- Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndromeH M Hoffman
Division of Rheumatology, Allergy and Immunology, University of California at San Diego, 92093 0635, USA
Clin Dysmorphol 10:1-8. 2001..A review of the literature and the London Dysmorphology Database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology...
- Identification of a locus on chromosome 1q44 for familial cold urticariaH M Hoffman
Department of Medicine, University of California at San Diego, La Jolla, CA 92093, USA
Am J Hum Genet 66:1693-8. 2000..5-cM region between markers D1S423 and D1S2682. Muckle-Wells syndrome was recently linked to chromosome 1q44, which suggests that the two disorders may be linked to the same locus...
- Development of an experimental paradigm in which to examine human learning using two computer-based formatsH M Hoffman
Learning Resources Center, 9500 Gilman Drive, La Jolla CA 92093 0661, USA
Stud Health Technol Inform 81:187-91. 2001..The results of the pilot study will be used to refine and improve the design of the remainder of studies planned in this experimental series...
- Expression and regulation of cryopyrin and related proteins in rheumatoid arthritis synoviumS Rosengren
Division of Rheumatology, Allergy and Immunology, Department of Medicine, UCSD School of Medicine, 0656, 9500 Gilman Drive, La Jolla California 92093 0656, USA
Ann Rheum Dis 64:708-14. 2005..Rheumatoid arthritis (RA) synovium is characterised by enhanced NF-kappaB activity and proinflammatory cytokines. Cryopyrin (CIAS-1, NALP-3, PYPAF-1) has been shown to regulate NF-kappaB and caspase-1 activation...
- Autoinflammation: translating mechanism to therapyTaylor A Doherty
Division of Allergy, Immunology, and Rheumatology, University of California at San Diego, School of Medicine, 9500 Gilman Dr, La Jolla, CA 92093 0635, USA
J Leukoc Biol 90:37-47. 2011..Here, we review current treatment strategies of autoinflammatory diseases with a focus on IL-1 antagonism...