Periodic Fever Syndromes

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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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References (106)

  • C. Dode et al.

    New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

    Am J Hum Genet

    (2002)
  • L.C. Miller et al.

    Prolonged fevers of unknown origin in children: patterns of presentation and outcome

    J Pediatr

    (1996)
  • G.S. Marshall et al.

    Syndrome of periodic fever, pharyngitis, and aphthous stomatitis

    J Pediatr

    (1987)
  • D.A. Cabral et al.

    Malignancies in children who initially present with rheumatic complaints

    J Pediatr

    (1999)
  • D.C. Dale et al.

    Cyclic neutropenia: a clinical review

    Blood Rev

    (1988)
  • S.S. Long

    Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA)—what it isn't. What is it?

    J Pediatr

    (1999)
  • M.F. McDermott et al.

    Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes

    Cell

    (1999)
  • J.W.M. Van der Meer et al.

    Hyperimmunoglobulinemia D and periodic fever: a new syndrome

    Lancet

    (1984)
  • W.G. Reeves et al.

    Hyperimmunoglobulinemia D and periodic fever

    Lancet

    (1984)
  • J.P.H. Drenth et al.

    Hyperimmunoglobulinemia D syndrome: conference

    Lancet

    (1995)
  • M. McDermott et al.

    Linkage of familial Hibernian fever to chromosome 12p13

    Am J Hum Genet

    (1998)
  • J. Feldmann et al.

    Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

    Am J Hum Genet

    (2002)
  • D.L. Kastner et al.

    A fever gene comes in from the cold

    Nat Genet

    (2001)
  • C. Stehlik et al.

    The PYRIN connection: novel players in innate immunity and inflammation

    J Exp Med

    (2004)
  • C. Miceli-Richard et al.

    CARD15 mutations in Blau syndrome

    Nat Genet

    (2001)
  • M.N.G. La Regina et al.

    Familial Mediterranean fever is no longer a rare disease in Italy

    Eur J Hum Genet

    (2004)
  • K. Konstantopoulos et al.

    Familial Mediterranean fever associated pyrin mutations in Greece

    Ann Rheum Dis

    (2003)
  • Y. Kotone-Miyahara et al.

    E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever

    Int J Hematol

    (2004)
  • H. Heller et al.

    Familial Mediterranean fever

    Harefuah

    (1955)
  • R. Cattan et al.

    14 cas de Maladie periodique de dont 8 compliques de nephropathies

    Semaine Hop Paris

    (1952)
  • H.A. Retmann et al.

    Periodic peritonitis—heredity and pathology. Report of seventy-two cases

    JAMA

    (1954)
  • E. Sohar et al.

    Genetics of familial Mediterranean fever

    Arch Intern Med

    (1961)
  • H. Heller et al.

    The arthritis of familial Mediterranean fever (FMF)

    Arthritis Rheum

    (1966)
  • S.E. Goldfinger

    Colchicine for familial Mediterranean fever

    N Engl J Med

    (1972)
  • D. Zemer et al.

    A controlled trial of colchicine in preventing attacks of familial Mediterranean fever

    N Engl J Med

    (1974)
  • E. Pras et al.

    Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16

    N Engl J Med

    (1992)
  • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever

    Cell

    (1997)
  • A candidate gene for familial Mediterranean fever

    Nat Genet

    (1997)
  • D. Michaeli et al.

    Intestinal strangulation complicating familial Mediterranean fever

    BMJ

    (1966)
  • O. Rabinovitch et al.

    Colchicine treatment in conception and pregnancy: two hundred thirty-one pregnancies in patients with familial Mediterranean fever

    Am J Reprod Immunol

    (1992)
  • H.A. Majeed et al.

    The acute scrotum in Arab children with familial Mediterranean fever

    Pediatr Surg Int

    (2000)
  • U. Saatci et al.

    Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis

    Eur J Pediatr

    (1997)
  • S. Kees et al.

    Tel Aviv: pericarditis as a rare manifestation of familial Mediterranean fever (FMF)

  • E. Sneh et al.

    Protracted arthritis in familial Mediterranean fever

    Rheumatol Rehab

    (1977)
  • M. Salai et al.

    Total hip replacement in familial Mediterranean fever

    Bull Hosp Jt Dis

    (1993)
  • P. Langevitz et al.

    Protracted febrile myalgia in patients with familial Mediterranean fever

    Rheumatology

    (1994)
  • E. Azizi et al.

    Cutaneous manifestations of familial Mediterranean fever

    Arch Dermatol

    (1976)
  • E. Pras et al.

    Clinical differences between North African and Iraqi Jews with familial Mediterranean fever

    Am Med Genet

    (1998)
  • M. Schlesinger et al.

    Henoch-Schonlein purpura and familial Mediterranean fever

    Isr J Med Sci

    (1985)
  • D. Sachs et al.

    Polyarteritis nodosa in familial Mediterranean fever

    Br J Rheumatol

    (1987)
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