What question did this study set out to answer?

To determine whether genetic alterations in complement factor I, a key inhibitor of the alternative complement pathway, confer susceptibility to atypical hemolytic uremic syndrome.

June 1, 2004Journal of Medical GeneticsOpen Access

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

View Full Paper

Ask AI

Bookmark

Authors

VFVéronique Frémeaux‐BacchiAssistance Publique – Hôpitaux de Paris

Discussion

Member takes

Overview

Genetic analysis reveals complement factor I as a susceptibility gene for atypical hemolytic uremic syndrome, indicating that defective alternative pathway regulation promotes kidney injury.

Key Points

To determine whether genetic alterations in complement factor I, a key inhibitor of the alternative complement pathway, confer susceptibility to atypical hemolytic uremic syndrome.
Screened complement regulatory genes in individuals presenting with non-diarrheal, atypical hemolytic uremic syndrome.
Evaluated the role of complement factor I, a serine proteinase that cleaves the alpha chain of C3b to downregulate the complement alternative pathway amplification loop.
Identified complement factor I as a novel susceptibility factor linked to the development and relapse of atypical hemolytic uremic syndrome.
Demonstrated that disruption in alternative pathway regulators, including factor I, factor H, and CD46, underlies uncontrolled complement activation and subsequent microvascular damage.

Cite This Study

Véronique Frémeaux‐Bacchi (2004) studied this question.

synapsesocial.com/papers/6a7d3ebdade38b7dc346d814 https://doi.org/10.1136/jmg.2004.019083

View Full Paper

Ask AI

Bookmark

June 1, 2004Journal of Medical GeneticsOpen Access

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

View Full Paper

Ask AI

Bookmark

Authors

VFVéronique Frémeaux‐BacchiAssistance Publique – Hôpitaux de Paris

Discussion

Member takes

Overview

Genetic analysis reveals complement factor I as a susceptibility gene for atypical hemolytic uremic syndrome, indicating that defective alternative pathway regulation promotes kidney injury.

Key Points

To determine whether genetic alterations in complement factor I, a key inhibitor of the alternative complement pathway, confer susceptibility to atypical hemolytic uremic syndrome.
Screened complement regulatory genes in individuals presenting with non-diarrheal, atypical hemolytic uremic syndrome.
Evaluated the role of complement factor I, a serine proteinase that cleaves the alpha chain of C3b to downregulate the complement alternative pathway amplification loop.
Identified complement factor I as a novel susceptibility factor linked to the development and relapse of atypical hemolytic uremic syndrome.
Demonstrated that disruption in alternative pathway regulators, including factor I, factor H, and CD46, underlies uncontrolled complement activation and subsequent microvascular damage.

Cite This Study

Véronique Frémeaux‐Bacchi (2004) studied this question.

synapsesocial.com/papers/6a7d3ebdade38b7dc346d814 https://doi.org/10.1136/jmg.2004.019083

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

View Full Paper

Ask AI

Bookmark