Periodic Fever Syndromes
Section snippets
Familial Mediterranean fever
FMF is an autosomal recessive disease mainly affecting ethnic groups living around the Mediterranean basin: Sephardic and Ashkenazi Jews, Armenians, Turks, Arabs, and Druze [6]. Scattered cases of FMF have been reported throughout the world, however, and cases are increasingly reported from other ethnicities, such as Greeks, Italians, Japanese, and others [7], [8], [9]. Although FMF existed in early Biblical times, it was first described as a separate nosologic entity in 1945 [10]. In the early
Periodic fever accompanied by aphthous stomatitis, pharyngitis, and cervical adenitis syndrome
PFAPA syndrome is a chronic disease of unknown cause characterized by periodic episodes of high fever accompanied by aphthous stomatitis, pharyngitis, and cervical adenitis, often associated with headache or abdominal or joint pain [56], [57], [58]. This syndrome belongs to the group of recurrent fever syndromes, which includes systemic-onset juvenile rheumatoid arthritis, cyclic neutropenia, and the group of hereditary fevers [59]. Unlike hereditary autoimmune fevers, however, PFAPA is a
Tumor necrosis factor receptor–associated periodic syndrome
TRAPS, formerly known as familial Hibernian fever (FHF), was first described in 1982 as an autosomal dominant periodic disease characterized by recurrent attacks of fever, abdominal pain, localized tender skin lesions, and myalgia in persons of Irish-Scottish ancestry. Pleurisy, leukocytosis, and high ESR were other features. The disease has a benign course, but later, secondary amyloidosis has been reported [77]. In patients with FHF, McDermott et al [78] identified germline mutations in the
Hyper-IgD and periodic fever syndrome
HIDS is a syndrome characterized by periodic febrile attacks occurring every 4 to 8 weeks with an intense inflammatory reaction accompanied by lymphadenopathy, abdominal pain, diarrhea, joint pain, hepatosplenomegaly, and cutaneous signs. HIDS was originally described in six patients by Van der Meer [82] in 1984. Subsequently, reports of similar cases have come from United Kingdom, France, and, later, Italy [83], [84], [85]. In 1995, by consensus, the acronym of HIDS was selected to designate
CIAS1-related autoinflammatory syndromes
The CIAS1 (named for cold-induced autoinflammatory syndrome) gene, located on chromosome 1p44, encodes a pyrin-like protein, cryopyrin, expressed predominantly in peripheral blood leukocytes. CIAS1-related autoinflammatory syndromes (CRAS) are three different diseases caused by mutation in the CIAS1 gene: CINCA syndrome (also known as NOMID/CINCA syndrome), FCUS, and MWS [59], [96], [97]. The first clinical signs of severe CRAS occur during childhood, sometimes presenting right after birth, and
Neonatal-onset multisystem inflammatory disease/chronic infantile neurologic cutaneous and articular syndrome
The triad of cutaneous rash, chronic meningitis, and arthropathy characterizes CINCA syndrome, also known as NOMID syndrome. It was been first described by Prieur and Griscelli [85] in 1981 and was known to the pediatric rheumatologists long before it was genetically associated with the hereditary autoimmune fever syndromes. It is a disease of chronic inflammation, often starting at birth, which lasts the entire lifetime. Long-term prognosis is poor, with progressive deafness, visual
Urticaria-deafness-amyloidosis syndrome
In 1962, Muckle and Wells described a dominantly inherited syndrome of urticaria, progressive perceptive deafness, and amyloidosis. The first manifestations of MWS usually start during infancy and consist of nonpruritic urticaria, low-grade fever, and often arthritis and conjunctivitis. Neurosensory hearing loss begins during adolescence and slowly evolves into deafness. Absent organ of Corti, atrophy of the cochlear nerve, and amyloid infiltration of the kidneys have been found on autopsy. The
Summary
Human autoinflammatory diseases (except for PFAPA) are a heterogeneous group of genetically determined diseases characterized by seemingly unprovoked inflammation, in the absence of autoimmune or infective causes (Table 3). The last decade has witnessed tremendous advances in the understanding of these disorders. These advances have allowed therapeutic interventions, resulting in improvement in the short-term and long-term morbidity of all of these diseases. Future research into the molecular
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Rheumatologic manifestations of autoinflammatory diseases
2023, Translational Autoimmunity: Volume 6: Advances in Autoimmune Rheumatic DiseasesPeriodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: A review
2021, World Journal of Otorhinolaryngology - Head and Neck SurgeryImmunity-Based Evolutionary Interpretation of Diet-Induced Thermogenesis
2016, Cell MetabolismCitation Excerpt :Periodic increases in body temperature are adaptive in the evolutionary sense. In fact, fever triggered by innate immunity is regulated in a periodic pattern (Padeh, 2005). Gut microbiota have an influence on the circadian rhythm of the host’s CBT (Leone et al., 2015).