hereditary periodic fever syndrome

WordNet

1. a unit of geological time during which a system of rocks formed; "ganoid fishes swarmed during the earlier geological periods" (同)geological period
2. (ice hockey) one of three divisions into which play is divided in hockey games
3. the end or completion of something; "death put a period to his endeavors"; "a change soon put a period to my tranquility"
4. the interval taken to complete one cycle of a regularly repeating phenomenon
5. a punctuation mark (.) placed at the end of a declarative sentence to indicate a full stop or after abbreviations; "in England they call a period a stop" (同)point, full_stop, stop, full point
6. happening or recurring at regular intervals; "the periodic appearance of the seventeen-year locust" (同)periodical
7. recurring or reappearing from time to time; "periodic feelings of anxiety" (同)occasional
8. a rise in the temperature of the body; frequently a symptom of infection (同)febrility, febricity, pyrexia, feverishness
9. intense nervous anticipation; "in a fever of resentment"
10. a pattern of symptoms indicative of some disease
11. a complex of concurrent things; "every word has a syndrome of meanings"
12. highly excited; "a fevered imagination"

PrepTutorEJDIC

1. (あることが続く)『期間』 / (歴史的な)『時代』 / (試合の)『一区切り』,ピリオド / 授業時間,時限: / (循環して起こる現象などの)周期 / (回転運動などの)周期 / 紀(地質時代の区分の一つ;era(代)の下,epoch(世)の上) / 《おもに米》『ピリオド』,終止符(《英》full stop;Mr.,U.S.など略語の符号(.)も含む) / 《複数形で》《文》掉尾(とうび)文(多くの節から成り,論理的に緊密な構成をもっている文) / 《名詞の前にのみ用いて》ある時代[特有]の,時代物の / (文の終わりに感嘆詞的に)以上,終わり・月経（期間）
2. 定期的な,周期的な / ときぎき起こる: / 掉尾(とうび)的の:
3. 〈U〉《しばしばa fever》(身体の異常な)『熱』,発熱 / 〈U〉『熱病』 / 〈U〉〈C〉(…に対する)『興奮』,熱狂《+『for』+『名』》
4. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
5. (比較変化なし)《名詞の前にのみ用いて》熱のある,熱病にかかった / 熱にうかされたような,興奮した / (憎しみなどが)異常に強い

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/12/23 14:10:35」(JST)

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Periodic fever syndrome
Classification and external resources
ICD-10	E85.0
ICD-9	277.31
DiseasesDB	9836
eMedicine	article/952254
MeSH	D056660

The periodic fever syndromes (also known as autoinflammatory syndromes) are a set of disorders, many of which are genetic disorders in which the mechanisms which initiate and control inflammation are disturbed, leading to uncontrolled inflammation throughout the body. The syndromes are diverse, but tend to cause fever, joint pains, abdominal pains and may lead to chronic complications such as amyloidosis.

Restated, autoinflammatory syndromes are a group of inherited disorders characterized by bouts of inflammatory skin lesions and periodic fevers.

Periodic fever syndromes are medically distinct from immunodeficiency conditions, in which infections can occur frequently and induce fever.

Individual periodic fever syndromes

Name	OMIM	Gene
Familial Mediterranean fever (FMF)	249100	MEFV
Hyperimmunoglobulinemia D with recurrent fever (HIDS). This is now (along with mevalonic aciduria) defined as a mevalonate kinase deficiency	260920	MVK
TNF receptor associated periodic syndrome (TRAPS)	142680	TNFRSF1A
CAPS: Muckle-Wells syndrome (urticaria deafness amyloidosis)	191900	NLRP3
CAPS: Familial cold urticaria	120100	NLRP3
CAPS: Neonatal onset multisystem inflammatory disease (NOMID)	607115	NLRP3
Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome)	none	?
Blau syndrome	186580	NOD2
Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA)	604416\	PSTPIP1
Deficiency of the interleukin-1–receptor antagonist (DIRA)	612852	IL1RN

References

See also

• List of cutaneous conditions

The autoinflammatory syndromes are of crucial importance for immunology in general. These syndromes actually define diseases that are driven by the innate immune system. Therefore, these conditions define the diametric genetic and immunopathological opposites of the classical autoimmune diseases that are driven by B and T cells. These diseases actually define one boundary of the immulological disease continuum of inflammation against self.

UpToDate Contents

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• 1. 周期性発熱症候群およびその他の自己炎症性疾患：概要 periodic fever syndromes and other autoinflammatory diseases an overview
• 2. アフタ性口内炎、咽頭炎およびリンパ節炎（PFAPA症候群）を伴う周期熱 periodic fever with aphthous stomatitis pharyngitis and adenitis pfapa syndrome
• 3. 腫瘍壊死因子受容体-1関連周期性発熱症候群（TRAPS） tumor necrosis factor receptor 1 associated periodic syndrome traps
• 4. 高IgD症候群：臨床症状および診断 hyperimmunoglobulin d syndrome clinical manifestations and diagnosis
• 5. 小児における不明熱の病因 etiologies of fever of unknown origin in children

English Journal

• Treatment of hereditary autoinflammatory diseases.

• Ter Haar NM1, Frenkel J.Author information 1aDepartment of Pediatric Rheumatology bDepartment of General Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.AbstractPURPOSE OF REVIEW: The purpose of this review is to summarize recent advances in the treatment of the hereditary autoinflammatory diseases, focusing on Familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndromes (CAPS) and mevalonate kinase deficiency (MKD). We discuss recently published studies and their implications for current patient care and future clinical research.
• Current opinion in rheumatology.Curr Opin Rheumatol.2014 May;26(3):252-8. doi: 10.1097/BOR.0000000000000059.
• PURPOSE OF REVIEW: The purpose of this review is to summarize recent advances in the treatment of the hereditary autoinflammatory diseases, focusing on Familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndromes (CA
• PMID 24667287

• Periodic fevers in adult Greeks: clinical and molecular presentation.

• Karatsourakis TP1, Oikonomaki KN, Tzioufas AG, Moutsopoulos HM.Author information 1Department of Pathophysiology, School of Medicine, University of Athens, Athens 11527, Greece. karatsourakis@yahoo.gr.AbstractOBJECTIVES: Hereditary periodic fever syndromes (HPFS) are rare diseases characterised by recurrent, self-limited episodes of fever and localised inflammation, which arise from monogenic defects. In the present study we describe the clinical features, laboratory parameters and genetic profile of adult patients.
• Clinical and experimental rheumatology.Clin Exp Rheumatol.2014 Apr 7. [Epub ahead of print]
• OBJECTIVES: Hereditary periodic fever syndromes (HPFS) are rare diseases characterised by recurrent, self-limited episodes of fever and localised inflammation, which arise from monogenic defects. In the present study we describe the clinical features, laboratory parameters and genetic profile of adu
• PMID 24708999

• A157: Macrophage Activation Syndrome-like Illness Due to an Activating Mutation in NLRC4.

• Canna S1, de Jesus AA, Deng Z, Gouni S, Marrero B, Brooks S, Dimattia M, Liu Y, Huang Y, Plass N, Chapelle DC, Montealegre G, Benseler S, Laxer RM, Goldbach-Mansky R.Author information 1NIAMS/NIH, Bethesda, MD.AbstractBACKGROUND/PURPOSE: Macrophage Activation Syndrome (MAS) is a life-threatening systemic inflammatory disorder of unknown etiology. While MAS has no known genetic basis, clinical similarity with a genetic disorder of impaired cytotoxicity known as primary Hemophagocytic Lymphohistiocytosis (HLH) has suggested shared pathogenesis. In contrast, other investigations have suggested innate immune dysregulation drives MAS.
• Arthritis & rheumatology (Hoboken, N.J.).Arthritis Rheumatol.2014 Mar;66 Suppl 11:S203. doi: 10.1002/art.38583.
• BACKGROUND/PURPOSE: Macrophage Activation Syndrome (MAS) is a life-threatening systemic inflammatory disorder of unknown etiology. While MAS has no known genetic basis, clinical similarity with a genetic disorder of impaired cytotoxicity known as primary Hemophagocytic Lymphohistiocytosis (HLH) has
• PMID 24677912

Japanese Journal

• Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

• LEHMANN Petra,SALZBERGER Bernd,HAERLE Peter,AKSENTIJEVICH Ivona,KASTNER Daniel,SCHOELMERICH Juergen,ROSENFELD Stephanie,MUELLER-LADNER Ulf
• Modern rheumatology 20(3), 311-315, 2010-06-01
• NAID 10027169540

Related Links

• Hereditary Periodic Fever Syndromes - E-Medicine - Medscape

11 Jan 2013 ... Background. Hereditary periodic fever syndromes (HPFSs) are rare and distinct heritable disorders characterized by short and recurrent attacks of fever and severe localized inflammation that occur periodically or irregularly ...

• Periodic fever syndrome - Wikipedia, the free encyclopedia

The periodic fever syndromes (also known as autoinflammatory syndromes) are a set of disorders, many of which are genetic disorders in which the mechanisms which initiate and control inflammation are disturbed, leading to uncontrolled ...

Related Pictures

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★リンクテーブル★

リンク元	「periodic disease」「遺伝性周期性発熱症候群」「familial mediterranean fever」
関連記事	「periodic」「hereditary」「period」「syndrome」

「periodic disease」

　　[★]

• 周期性疾患、周期疾患

関

familial mediterranean fever、hereditary periodic fever syndrome

「遺伝性周期性発熱症候群」

　　[★]

英

hereditary periodic fever syndrome

関

家族性地中海熱、周期性疾患

「familial mediterranean fever」

　　[★]

家族性地中海熱

関

hereditary periodic fever syndrome、periodic disease

「periodic」

　　[★]

• adj

• 周期的な、(天)周期運動をする、周期手金あ。定期の、定時の。間欠的な、断続的な。

関

cyclic, cyclical, cyclically, cyclicity, periodical, periodically, periodicity, regular, regularly, rhythmic

　 　 　

「hereditary」

　　[★]

• adj.

• 遺伝性の、遺伝の

関

heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited

　

「period」

　　[★]

• n.

• 期間、時期

関

duration、phase、stage、term、time

　 　 　 　 　 　

「syndrome」

　　[★]

• n.

• 症候群