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Research Article Free access | 10.1172/JCI106902

C1r deficiency: an inborn error associated with cutaneous and renal disease

N. K. Day, H. Geiger, R. Stroud, M. deBracco, B. Mancado, D. Windhorst, and R. A. Good

Department of Pathology, University of Minnesota, Minneapolis, Minnesota 55455

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455

Department of Medicine, University of Alabama, Birmingham, Alabama 35233

Division of Dermatology, University of Chicago, Chicago, Illinois 60601

Find articles by Day, N. in: PubMed | Google Scholar

Department of Pathology, University of Minnesota, Minneapolis, Minnesota 55455

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455

Department of Medicine, University of Alabama, Birmingham, Alabama 35233

Division of Dermatology, University of Chicago, Chicago, Illinois 60601

Find articles by Geiger, H. in: PubMed | Google Scholar

Department of Pathology, University of Minnesota, Minneapolis, Minnesota 55455

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455

Department of Medicine, University of Alabama, Birmingham, Alabama 35233

Division of Dermatology, University of Chicago, Chicago, Illinois 60601

Find articles by Stroud, R. in: PubMed | Google Scholar

Department of Pathology, University of Minnesota, Minneapolis, Minnesota 55455

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455

Department of Medicine, University of Alabama, Birmingham, Alabama 35233

Division of Dermatology, University of Chicago, Chicago, Illinois 60601

Find articles by deBracco, M. in: PubMed | Google Scholar

Department of Pathology, University of Minnesota, Minneapolis, Minnesota 55455

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455

Department of Medicine, University of Alabama, Birmingham, Alabama 35233

Division of Dermatology, University of Chicago, Chicago, Illinois 60601

Find articles by Mancado, B. in: PubMed | Google Scholar

Department of Pathology, University of Minnesota, Minneapolis, Minnesota 55455

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455

Department of Medicine, University of Alabama, Birmingham, Alabama 35233

Division of Dermatology, University of Chicago, Chicago, Illinois 60601

Find articles by Windhorst, D. in: PubMed | Google Scholar

Department of Pathology, University of Minnesota, Minneapolis, Minnesota 55455

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455

Department of Medicine, University of Alabama, Birmingham, Alabama 35233

Division of Dermatology, University of Chicago, Chicago, Illinois 60601

Find articles by Good, R. in: PubMed | Google Scholar

Published May 1, 1972 - More info

Published in Volume 51, Issue 5 on May 1, 1972
J Clin Invest. 1972;51(5):1102–1108. https://doi.org/10.1172/JCI106902.
© 1972 The American Society for Clinical Investigation
Published May 1, 1972 - Version history
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Abstract

The studies of sera from two siblings with C1r deficiency are described. The brother (18 yr old) has shown clinical manifestations resembling lupus erythematosus for 5 yr, and the sister (24 yr old) has had arthralgia and recurrent episodes of rhinobronchitis since early childhood. Three siblings have died: one brother died at age 12 with symptoms similar to the disease of the male patient studied here, and two other siblings died in infancy, probably from infection. The low hemolytic C1 activity of the patients could be restored by the addition of purified C1r to their sera. Bactericidal activity and immune adherence were found to be impaired. When alternate pathways of the complement system were studied, both sera permitted activation of terminal components with endotoxin and cobra venom factor. These findings support the view that an alternate pathway for activation of the terminal portion of the complement cascade exists which does not utilize the conventional pathway operating through the usual early components.

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