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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/23 22:04:40」(JST)

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1. クリオピリン関連周期性発熱症候群および関連疾患 cryopyrin associated periodic syndromes and related disorders
2. 寒冷蕁麻疹 cold urticaria
3. 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
4. 好中球増多症の原因 causes of neutrophilia
5. アミロイド疾患の遺伝的要因 genetic factors in the amyloid diseases

Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations.

Schuh E1, Lohse P1, Ertl-Wagner B1, Witt M1, Krumbholz M1, Frankenberger M1, Gerdes LA1, Hohlfeld R1, Kümpfel T1.
Neurology® neuroimmunology & neuroinflammation.Neurol Neuroimmunol Neuroinflamm.2015 May 14;2(4):e109. doi: 10.1212/NXI.0000000000000109. eCollection 2015.
OBJECTIVE: To evaluate the frequency of the cryoporin/NLRP3 low-penetrance mutations V198M and Q703K in patients who reported at least 2 symptoms compatible with cryopyrin-associated periodic syndromes (CAPS) and to characterize the phenotype in mutation-positive patients.METHODS: The frequency of t
PMID 26020059

Impact of IL-1 inhibition on fatigue associated with Autoinflammatory syndromes.

Efthimiou P, Yadlapati S.
Modern rheumatology / the Japan Rheumatism Association.Mod Rheumatol.2015 Jul 3:1-22. [Epub ahead of print]
Cryopyrin associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory syndrome (FCAS), Muckle-wells syndrome (MWS), and Neonatal onset multisystemic inflammatory disease (NOMID) . CAPS is caused by a mutation in the NLRP3 (NOD like
PMID 26140469

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G1, Grandemange S, Touitou I.
Expert review of clinical immunology.Expert Rev Clin Immunol.2015 Jul;11(7):827-35. doi: 10.1586/1744666X.2015.1047765. Epub 2015 May 15.
Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammat
PMID 25979514

齋藤潤
日本臨床免疫学会会誌 34(5), 369-377, 2011
… periodic syndrome）は自己炎症性症候群の一つで，NLRP3のヘテロ変異により発症する．CAPSは類似の表現型を取る3つの症候群，すなわち家族性寒冷自己炎症症候群（FCAS），Muckle-Wells症候群およびCINCA症候群の総称である．これらのうち，FCASが最軽症，CINCAが最重症の表現型を取る．共通の表現型は自発的もしくは寒冷誘発性の蕁麻疹様発疹と発熱である．重症型では，難聴，髄膜炎，関節拘縮，二次性 …
NAID 130001384912