Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479

Blood Transfus. 2014 Jan;12(1):111-3. doi: 10.2450/2013.0107-13. Epub 2013 Nov 15.

Authors

Preeti Chaudhary¹, Mehmet Hepgur¹, Sarmen Sarkissian², Richard J H Smith³, Ilene C Weitz¹

Affiliations

¹ Jane Anne Nohl Division of Hematology, Los Angeles, CA, United States of America.
² Division of Internal Medicine Keck-USC School of Medicine, Los Angeles, CA, United States of America.
³ Department of Internal Medicine, University of Iowa School of Medicine, Iowa City, IA, United States of America.

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Atypical Hemolytic Uremic Syndrome
Blood Proteins / genetics*
Complement C3b Inactivator Proteins / genetics*
Complement Factor H / genetics*
Female
Hemolytic-Uremic Syndrome / genetics*
Heterozygote*
Humans
Point Mutation*

Substances

Blood Proteins
CFHR1 protein, human
CFHR2 protein, human
CFHR3 protein, human
Complement C3b Inactivator Proteins
Complement Factor H