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Article

A p190BRhoGAP mutation and prolonged RhoB activation in fatal systemic capillary leak syndrome.

The Journal of experimental medicine - 4 Dec 2017

Pierce Richard W, Merola Jonathan, Lavik John Paul, Kluger Martin S, Huttner Anita, Khokha Mustafa K, Pober Jordan S

Abstract excerpt

We describe a fatal case of pediatric systemic capillary leak (Clarkson's disease) associated with a point mutation in p190BRhoGAP. Dermal microvascular endothelial cells (ECs) isolated from this patient form monolayers with similar levels and distribution of junctional proteins and transendothelial electrical resistance compared with normal human dermal microvascular ECs. However, patient-derived ECs demonstrate...

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Identifiers

PMID: 29097442
DOI: 10.1084/jem.20162143
PMCID: PMC5716031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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