Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome.
نویسندگان
چکیده
Hereditary periodic fever syndromes are characterized by incapacitating attacks of fever and generalized inflammation. While the mutated genes for the major syndromes in this group are known, the pathogenesis remains unclear. The aim of this study was to investigate apoptosis in patients with periodic fever as a possible pathogenic factor. We measured anisomycin-induced apoptosis with annexin-V flow cytometry and caspase-3/7 activity in peripheral-blood lymphocytes from symptom-free patients with hyper-IgD and periodic fever syndrome (HIDS; n = 10), TNF-receptor-associated periodic syndrome (TRAPS; n = 7), and familial Mediterranean fever (FMF; n = 2). HIDS lymphocytes showed a decreased percentage of apoptosis during remission by both methods compared with controls (17.8% vs 55.4%), whereas no difference was observed in TRAPS or FMF lymphocytes. This defective apoptosis of lymphocytes may be a central pathogenic mechanism in HIDS, since dysfunction of one of the inhibitory mechanisms to curtail the immunologic response could cause an unbridled generalized inflammation after a trivial stimulus.
منابع مشابه
Th17 Lymphocytes Percentage in Peripheral Blood of Iranian Patients with Autosomal Recessive Hyper IgE Syndrome
Background and Aims: Patients with Hyper-IgE syndrome suffer from fungal and bacterial infections, especially Candida albicans and Staphylococcus aureus. Due to the important role of T helper17 (Th17) lymphocytes in defense against fungal infections, the percentage of Th17 lymphocytes was studied in the patients with autosomal recessive hyper-IgE syndrome (AR-HIES). Materials and Methods: In...
متن کاملA Case of Hyper IgD and Periodic Fever Syndrome in Japan
We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan. In this report a girl complained of periodic fever and abdominal symptoms accompanied with high levels of mevalonic acid in urine and serum. She has been well controlled by non-steroidal anti-inflammatory drugs (NS...
متن کاملTemperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.
Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria are autosomal recessive disorders characterized by recurrent episodes of fever and generalized inflammation. Both syndromes are caused by specific mutations in the gene encoding mevalonate kinase (MK), resulting in a depressed enzymatic activity mainly due to reduced protein levels. We studied the effect of temperature on the a...
متن کاملLong-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study
Introduction Hyper-IgD with periodic fever syndrome (HIDS) is an autoinflammatory disease characterized by periodic episodes of fever, abdominal distress, joint pain, and skin rashes. IL-1 blockade was previously reported as effective in reducing the frequency of episodes and improving clinical symptoms.[,] We report the results of the study assessing the efficacy and safety of canakinumab, an ...
متن کاملUnstimulated peripheral blood mononuclear cells from patients with the hyper-IgD syndrome produce cytokines capable of potent induction of C-reactive protein and serum amyloid A in Hep3B cells.
The hyper-IgD and periodic fever syndrome (HIDS) and familial Mediterranean fever (FMF) are both characterized by attacks of periodic fever accompanied by acute phase responses that are substantially higher in HIDS than in FMF. To determine whether this difference could be due to differences in production of acute phase protein-inducing mediators, we studied PBMC from HIDS and FMF patients in t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Blood
دوره 109 6 شماره
صفحات -
تاریخ انتشار 2007