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Rheumatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clarissa Pilkington, Kiran Nistala, Helen Lachman, Paul Brogan
Autoimmune or autoinflammatory diseases: JIA-particularly the systemic form.JDM.SLE.undifferentiated connective tissue disease.sarcoidosis.Behçet disease.
Pericardium
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
The pathogenesis of recurrent pericarditis is poorly understood but underlying autoinflammatory and/or autoimmune disorders, with viral infections as possible triggers, seems likely. This is predominantly mediated by cytokines (mainly interleukin-1 (IL-1)). Autoinflammatory diseases such as cryopyrin-associated periodic syndromes and familial Mediterranean fever are characterized by spontaneous onset of intermittent inflammatory attacks with fever and serositis frequently including pericarditis. In recurrent pericarditis, the autoinflammatory mechanism may result from activation of the inflammasome by a cardiotropic virus or a nonspecific agent in a patient who has abnormal innate immunity. This will cause release of pro-inflammatory cytokines including interleukins, mainly IL-1 that bring neutrophils and macrophages to the injured area. Of note, colchicine is able to modulate innate immunity and to block the processing of IL-1β. Its efficacy in the treatment of relapses is largely proven, as well as in the reduction of pericarditis recurrences. More recently, anakinra–a short-acting IL-1 receptor antagonist–has shown good results in controlling an acute attack and decreasing relapses in idiopathic recurrent pericarditis. On the other hand, the inflammatory response of the adaptive immune system, typical of ‘autoimmune diseases’, mainly mediated by autoantibodies or autoreactive T lymphocytes also seem to be involved in idiopathic recurrent pericarditis. Anti-heart autoantibodies or anti-intercalated disc autoantibodies have been found in adult cases and are associated with a higher number of recurrences. For corticosteroid-dependent recurrent pericarditis, steroid-sparing immunosuppressive agents such as azathioprine, IVIG or anakinra may be used as third-line therapy. If all else fails, pericardiectomy remains a last resort.
Clinical phenotypes and genetic analyses for diagnosis of systemic autoinflammatory diseases in adult patients with unexplained fever
Published in Modern Rheumatology, 2021
Yukiko Hidaka, Kyoko Fujimoto, Norikazu Matsuo, Takuma Koga, Shinjiro Kaieda, Satoshi Yamasaki, Munetoshi Nakashima, Kiyoshi Migita, Manabu Nakayama, Osamu Ohara, Tomoaki Hoshino, Ryuta Nishikomori, Hiroaki Ida
In the search for pathogenic variants in 10 disease genes other than MEFV, diagnosis was not made for cryopyrin-associated periodic syndromes (CAPS) [23], Blau syndrome [24], familial cold-induced autoinflammatory syndrome 2 (FCAS2) [25], NLRC4-associated macrophage activation syndrome [26,27], and PLAID/APLAID [28,29] with variants in responsible genes NLRP3, NOD2, NLRP12, NLRC4, and PLCG2, respectively. In recent years, there have been reported cases of SAIDs that exhibit various symptoms associated with the identified disease gene other than the main clinical symptoms of SAIDs [14,15], especially undefined autoinflammatory disease with NLRP3 variants [15,30], NOD2-associated autoinflammatory disease (Yao syndrome) [31], NLRP12 autoinflammatory disease (NLRP12-AD) [14,32], and NLRC4-related autoinflammatory disease [33]. In the cases in this study, clinical symptoms of these 4 autoinflammatory diseases were not reached to clinical diagnosis of each SAID. However, because many of these diseases have symptoms of fever, the rare variants identified on these SAID gene may be associated with fever. Ter Haar and colleagues [34] conducted a clinical and genetic analysis on 187 cases with fever but no diagnosis of SAIDs as ‘undefined autoinflammatory disease’. The most common symptoms in addition to fever were arthralgia, myalgia, and abdominal pain, which was similar to our study. The researchers stated that the lack of complete genetic analysis was a challenge [34].
Haploinsufficiency of A20 with a novel mutation of deletion of exons 2–3 of TNFAIP3
Published in Modern Rheumatology, 2021
Maho Shimizu, Tadashi Matsubayashi, Hidenori Ohnishi, Mina Nakama, Kazushi Izawa, Yoshitaka Honda, Ryuta Nishikomori
Autoinflammatory diseases are caused by innate immunity dysfunction with increased proinflammatory cytokines such as interleukin-1β (IL-1β) and tumor necrosis factor-α (TNF-α). In contrast, autoimmune diseases result from adaptive immunity dysfunction with activation of self-reactive T cells and autoantibodies. The most important pathway that promotes immune cell activation is the NF-κB signaling pathway, which is tightly controlled by A20. A20 is encoded by TNF-induced protein 3 (TNFAIP3) and negatively regulates the TNF-α-NF-κB signaling pathway [1]. Because A20 is expressed in both innate and adaptive immune cells, TNFAIP3 mutation provokes excessive activation of the NF-κB signaling pathway, leading to development of autoinflammatory and/or autoimmune diseases. In 2016, Zhou et al. proposed a new autoinflammatory disease, haploinsufficiency of A20 (HA20), which is caused by a dominantly inherited loss-of-function mutation in TNFAIP3 [2]. The purpose of this article is to demonstrate the validity and usefulness of multiplex ligation-dependent probe amplification (MLPA) assay in potential HA20 patients without detectable mutation in TNFAIP3 by conventional genomic sequencing.
Vitamin D binding protein genotype frequency in familial Mediterranean fever patients
Published in Scandinavian Journal of Rheumatology, 2020
C Orhan, B Seyhan, O Baykara, M Yildiz, O Kasapcopur, N Buyru
In this cross-sectional study, patients were recruited from Istanbul University–Cerrahpasa, Cerrahpasa Medical Faculty, Rheumatology Clinics. After physical and clinical examination by the rheumatologist, peripheral blood of 107 patients [68 (63.6%) females, 39 (36.4%) males] who applied for MEFV gene analysis to the Molecular Genetics Laboratory, Cerrahpasa Medical Faculty between April 2015 and June 2016 was used. The diagnosis of FMF was made according to the clinical findings in light of previously published and highly accepted diagnostic criteria (16, 17). All of the patients met the Tel-Hashomer diagnostic criteria. Inflammation was evaluated according to the manifestation of peritonitis, arthritis, and/or pleurisy. Patients with signs suggestive of autoinflammatory diseases other than FMF and patients who did not meet the criteria were excluded from the study. Blood samples of 25 healthy volunteers [(12 females (48%), 13 males (52%)] who were also examined by the rheumatologist were used as controls. None of the control subjects had FMF and/or a family history. To make sure of this, the FMF gene analysis was also performed for the control subjects.