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Phagocytic cells and their functions
Published in Gabriel Virella, Medical Immunology, 2019
Gabriel Virella, John W. Sleasman
Cold autoinflammatory syndromes (cryopyrin-associated periodic syndromes [CAPS]) are hereditary autosomic-dominant diseases characterized by nonpruritic urticarial, arthritis, fever, and leukocytosis after cold exposure. The predominant genetic defect is within the NLRP3 gene, resulting in gain of function and constitutional hyperactivity of the inflammasome. This results in abnormally high production of IL-1β due to alterations of cryopyrin inflammasomes by abnormal NLRP3 signaling. Treatment consists of drugs that prevent IL1-β signaling, such as anakinra, rilonacept, and canakinumab.
Immune system of the newborn
Published in Prem Puri, Newborn Surgery, 2017
Judith Meehan, Murwan Omer, Fiona O’hare, Denis J. Reen, Eleanor J. Molloy
Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of autoinflammatory disorders; milder forms include familial cold autoinflammatory syndrome and Muckle–Wells syndrome, while the most severe form is represented by neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous, and arthritis.159 CAPS results from gain-of-function mutations in the gene coding for NLRP3, a key component of NLRP3 inflammasome, which precipitates an overproduction of IL-1 beta.149
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
The periodic fever syndromes are disorders of innate immunity, now usually referred to as autoinflammatory diseases. They are characterised by the following: Recurring episodes of fever and constitutional upset, but with normal health between attacks.Systemic inflammatory symptoms affecting: serosal surfacesjointsskineyes.Biochemical markers of inflammation: raised ESR, CRP and leucocytosis.Near normal life expectancy, except for risk of developing AA amyloidosis in later life.Seven major inherited syndromes are well described, but many new monogenic autoinflammatory diseases have recently been discovered (Table 17.1): FMF.TNF receptor-associated period syndrome (TRAPS).mevalonate kinase deficiency (MKD) (also known as hyperimmunoglobulin D and periodic fever syndrome [HIDS]).cryopyrin-associated periodic syndrome (CAPS) (subdivided into familial cold autoinflammatory syndrome [FCAS], Muckle Wells syndrome [MWS] and chronic infantile, neurological, cutaneous and articular syndrome/neonatal onset multi-system inflammatory disease [CINCA/NOMID]).pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.deficiency of IL-1 receptor antagonist (DIRA).Blau syndrome/early onset sarcoidosis (EOS).
Hematopoietic stem cell transplantation in systemic autoinflammatory diseases - the first one hundred transplanted patients
Published in Expert Review of Clinical Immunology, 2022
Sara Signa, Gianluca Dell’Orso, Marco Gattorno, Maura Faraci
Cryopyrin-associated periodic syndrome (CAPS) is an inherited inflammatory disorder [8], caused by mutations of NLRP3 encoding for protein involved in a multiprotein complex called Inflammasome, that is crucial for the activation and secretion of IL-1β. CAPS is secondary to gain-of function mutations that lead to an over activation of IL-1β and is characterized by skin rash, fever and inflammatory manifestations involving eyes, ears, bones, joints and central nervous system (CNS), with a variable disease spectrum. Treatment for CAPS consists mainly in IL-1β blockers (anakinra, rilonacept or canakinumab). A recent case report [24] describes a patient with CAPS and an intermediate severity phenotype (Muckle-Wells syndrome), who received an HSCT due to acute lymphoblastic leukemia (ALL) occurrence. After HSCT, the patient was completely free of CAPS signs/symptoms, with normal acute phase reactants. Seven years after HSCT, she is alive in a good condition, with a complete remission of both ALL and CAPS. Authors suggest that, since the expression of NLRP3 is non exclusive of the hematopoietic compartment, careful evaluation and larger studies are required to estimate the possible real benefit of HSCT in CAPS patients, especially those suffering from the most severe form, namely, CINCA (chronic infantile neurologic cutaneous articular) syndrome or NOMID (Neonatal-onset multisystem inflammatory disease).
The current status of biological treatment for uveitis
Published in Expert Review of Clinical Immunology, 2020
Carla Gaggiano, Jurgen Sota, Stefano Gentileschi, Valeria Caggiano, Salvatore Grosso, Gian Marco Tosi, Bruno Frediani, Luca Cantarini, Claudia Fabiani
To date, scientific evidences about ANA and CAN effectiveness on NIU are limited to the treatment of BD-, Blau syndrome- and cryopyrin-associated periodic syndromes (CAPS)-related ocular disease. On the heels of the favorable results suggested by some reports and few small case series [143–145–146–147–148–149–150–151–152], an Italian multicenter study retrospectively analyzed the clinical course of 19 patients suffering from BD-related anterior, posterior or panuveitis, undergone IL-1 inhibitors because of refractory or long-lasting unresponsive intraocular inflammation. The number of ocular flares occurred during the 12-month treatment period was significantly lower than in the previous 12 months (200 episodes/100 patients/year versus 48.87 episodes/100 patients/year) and the frequency of retinal vasculitis was considerably decreased as well; in addition, visual acuity was preserved over the 12-month follow-up and mean steroid dosage was significantly tapered down [153]. It is worth mentioning that the presence of uveitis has been demonstrated capable of influencing the response to IL-1 inhibition in patients affected by BD, on par with systemic disease duration [154].
Fatigue in pediatric patients with familial Mediterranean fever
Published in Modern Rheumatology, 2018
Semanur Özdel, Z. Birsin Özçakar, Nilgün Cakar, Fatma Aydın, Elif Çelikel, Atilla H. Elhan, Fatoş Yalçınkaya
Familial Mediterranean fever (FMF) is caused by mutations in pyrin, a protein expressed in innate immune cells that interacts with ASC (the inflammasome adaptor protein). The subsequent assembly of the inflammasome was suggested to activate caspase-1 leading to the cleavage and activation of IL-1β [7,8]. Fatigue in FMF has not been studied previously. However, small number of studies showed fatigue as a major contributor in the morbidity of cryopyrin-associated periodic syndrome (CAPS), adversely affecting the quality of life of those patients [26–29]. In patients with CAPS, gain of function mutations in the NLRP3 gene cause spontaneous oligomerization of cryopyrin and assembly of the inflammasome, resulting in activation of IL-1-converting enzyme (caspase 1) and subsequent cleavage of pro-IL-1β into active IL-1β. IL-1 β has been shown as an essential mediator in the central pathways of fatigue in various animal and human studies [26]. Studies conducted by Kone-Paut et al. [28] and Marsaud et al. [29] showed the effectiveness of canakinumab in the treatment of CAPS-related fatigue. Remission of clinical symptoms especially fatigue along with reduced inflammatory markers in the clinical trial done by Kone-paut et al. provide evidence of positive impact of canakinumab on CAPS-associated fatigue. We did not know the exact cause of fatigue in FMF patients; however, it seems that it could most probably be related with IL-1β.