Monogenic autoinflammatory diseases: concept and clinical manifestations.
Bethesda, United States. In Clin Immunol, Jun 2013
The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Utrecht, Netherlands. In Ann Rheum Dis, May 2013
The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome.
An overview of interleukin-1 receptor antagonist, anakinra, in the treatment of cutaneous diseases.
Ahvāz, Iran. In Curr Clin Pharmacol, Nov 2012
The results show that anakinra is currently used clinically for the treatment of a variety of skin conditions such as psoriasis, atopic dermatitis, photoagaing, melanoma, Schnitzler syndrome, pyoderma gangraenosum, PAPA syndrome, hidradenitis suppurativa, lamellar ichthyosis, Sweet's syndrome, panniculitis, Muckle-Wells syndrome, familial Mediterranean fever, SAPHO syndrome and other disorders.
Monogenic causes of inflammatory disease in rheumatology.
Milwaukee, United States. In Curr Opin Rheumatol, Sep 2012
Further study of well defined monogenic causes of inflammatory diseases, such as FMF, PAPA, TRAPS, and HIDS, has elucidated the pathophysiology of these diseases leading to targeted immunotherapy with anticytokine biological medications.
Interleukin-1, inflammasomes, autoinflammation and the skin.
Zürich, Switzerland. In Swiss Med Wkly, 2011
In mouse models recapitulating mutations observed in CAPS, neutrophilic inflammation of the skin is a cardinal feature, in a manner similar to several autoinflammatory diseases with skin involvement such as PAPA (pyoderma gangrenosum, acne and pyogenic arthritis) and Schnitzler's syndrome, in which IL-1β very probably plays a pathogenic role.
mRNA expression signature of Gleason grade predicts lethal prostate cancer.
Boston, United States. In J Clin Oncol, 2011
METHODS: Using the complementary DNA-mediated annealing, selection, extension, and ligation assay, we measured the mRNA expression of 6,100 genes in prostate tumor tissue in the Swedish Watchful Waiting cohort (n = 358) and Physicians' Health Study (PHS; n = 109).
Chromosomal location of isozyme markers in wheat-barley addition lines.
Madrid, Spain. In Theor Appl Genet, 1985
The peroxidase (CPX, PER), α-amylase (α-AMY), acid and alkaline phosphatase (PHE, PHS) and esterase (EST) zymogram phenotypes of 'Chinese Spring' wheat, 'Betzes' barley and a number of presumptive 'Betzes' chromosome additions to 'Chinese Spring' were determined.