Cryopyrin-associated periodic syndrome pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
The exact pathogenesis of | The exact pathogenesis of cryopyrin-associated periodic syndrome is not fully understood. | ||
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3]. | It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3]. | ||
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==Pathophysiology== | ==Pathophysiology== | ||
===Pathogenesis=== | ===Pathogenesis=== | ||
*The exact pathogenesis of | *The exact pathogenesis of cryopyrin-associated periodic syndrome is not completely understood. | ||
OR | OR | ||
*It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3]. | *It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3]. | ||
*The pathophysiology of [disease/malignancy] depends on the histological subtype. | *The pathophysiology of [disease/malignancy] depends on the histological subtype. | ||
==Genetics== | ==Genetics== | ||
*Cryopyrin-associated periodic syndrome is transmitted in the autosomal dominant pattern. | *Cryopyrin-associated periodic syndrome is transmitted in the autosomal dominant pattern.<ref name="HoffmanMueller2001">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Mueller|first2=James L.|last3=Broide|first3=David H.|last4=Wanderer|first4=Alan A.|last5=Kolodner|first5=Richard D.|title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome|journal=Nature Genetics|volume=29|issue=3|year=2001|pages=301–305|issn=1061-4036|doi=10.1038/ng756}}</ref><ref name="ManthiramZhou2017">{{cite journal|last1=Manthiram|first1=Kalpana|last2=Zhou|first2=Qing|last3=Aksentijevich|first3=Ivona|last4=Kastner|first4=Daniel L|title=The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation|journal=Nature Immunology|volume=18|issue=8|year=2017|pages=832–842|issn=1529-2908|doi=10.1038/ni.3777}}</ref> | ||
*NLRP3 gene involved in the pathogenesis of this disorder. | *NLRP3 gene encoding a protein called cryopyrin (also known as nacht domain-, leucine-rich repeat- and pyrin domain-containing protein 3 [NALP3] or pyrin domain-containing apoptotic protease activating factor 1-like protein [PYPAF1] involved in the pathogenesis of this disorder. | ||
*Cryopyrin is derived from the Greek words for icy cold and fire. The recurrent episodes of this disease are usually triggered by cold. | |||
The | |||
==Associated Conditions== | ==Associated Conditions== | ||
Conditions associated with | *Conditions associated with cryopyrin-associated periodic syndrome include: | ||
==Gross Pathology== | ==Gross Pathology== | ||
Revision as of 20:11, 11 July 2019
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Cryopyrin-associated periodic syndrome Microchapters |
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Differentiating Cryopyrin-associated periodic syndrome from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
The exact pathogenesis of cryopyrin-associated periodic syndrome is not fully understood. It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Pathogenesis
- The exact pathogenesis of cryopyrin-associated periodic syndrome is not completely understood.
OR
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics
- Cryopyrin-associated periodic syndrome is transmitted in the autosomal dominant pattern.[1][2]
- NLRP3 gene encoding a protein called cryopyrin (also known as nacht domain-, leucine-rich repeat- and pyrin domain-containing protein 3 [NALP3] or pyrin domain-containing apoptotic protease activating factor 1-like protein [PYPAF1] involved in the pathogenesis of this disorder.
- Cryopyrin is derived from the Greek words for icy cold and fire. The recurrent episodes of this disease are usually triggered by cold.
Associated Conditions
- Conditions associated with cryopyrin-associated periodic syndrome include:
Gross Pathology
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Hoffman, Hal M.; Mueller, James L.; Broide, David H.; Wanderer, Alan A.; Kolodner, Richard D. (2001). "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome". Nature Genetics. 29 (3): 301–305. doi:10.1038/ng756. ISSN 1061-4036.
- ↑ Manthiram, Kalpana; Zhou, Qing; Aksentijevich, Ivona; Kastner, Daniel L (2017). "The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation". Nature Immunology. 18 (8): 832–842. doi:10.1038/ni.3777. ISSN 1529-2908.