Cryopyrin-associated periodic syndrome pathophysiology
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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].
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The progression to [disease name] usually involves the [molecular pathway].
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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.