Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (36)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by VYSE, T.J.
Right arrow Articles by WALPORT, M.J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by VYSE, T.J.
Right arrow Articles by WALPORT, M.J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Q J Med 1994; 87: 385-401
© 1994 Association of Physicians

research-article

Hereditary complement factor I deficiency

T.J. VYSE, P.J. SPÄTH1, K.A. DAVIES, B.J. MORLEY, P. PHILIPPE2, P. ATHANASSIOU, C.M. GILES and M.J. WALPORT

Rheumatology Unit, RPMS, Hammersmith Hospital London, UK 1ZLB, Central Laboratory, Blood Transfusion Service, SRC Berne, Switzerland 2Regional Hospital Delémont, Delémont Switzerland

Address correspondence to Professor M.J. Walport, Rheumatology Unit, RPMS, Hammersmith Hospital, Du Cane Road, London W12 ONN

Received 17 March 1994 Accepted for publication 13 July 1994.

We describe four cases (from three families) of hereditary factor I deficiency, bringing the total number of cases now reported to 23. In one family there are two affected siblings: one has suffered recurrent pyogenic infections; the other is asymptomatic. In the second family, the patient had recurrent pyogenic infections and a self-limiting vasculitic illness; in the third family, the patient suffered recurrent pyogenic and neisserial infections. All four patients had markedly reduced concentrations of C3 in the serum (family 1 propositus: 28%; family 1 asymptomatic sibling: 15%; family 2: 31%; and family 3: 31 % normal human serum) which was in the form of C3b. Low lgG2 levels may occur in primary C3 deficiency, and reduction in lgG2 concentration to 1.14 g/l (normal: 1.30–5.90 g/l) was found in the patient from family 2. Using radioligand binding assays, we demonstrated increased binding of C3b to erythrocytes in a patient with factor I deficiency. This C3b could not be cleaved by autologous serum but could be cleaved by normal serum or purified factor I. We review and compare the published cases of C3, factor H and factor I deficiency.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Immunol.Home page
X. Wu, D. Spitzer, D. Mao, S. L. Peng, H. Molina, and J. P. Atkinson
Membrane Protein Crry Maintains Homeostasis of the Complement System
J. Immunol., August 15, 2008; 181(4): 2732 - 2740.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
C. Gonzalez-Rubio, A. Ferreira-Cerdan, I. M. Ponce, J. Arpa, G. Fontan, and M. Lopez-Trascasa
Complement Factor I Deficiency Associated With Recurrent Meningitis Coinciding With Menstruation
Arch Neurol, November 1, 2001; 58(11): 1923 - 1928.
[Abstract] [Full Text] [PDF]

Home page
 Rheumatology (Oxford)Home page
M. C. Pickering and M. J. Walport
Links between complement abnormalities and systemic lupus erythematosus
Rheumatology, February 1, 2000; 39(2): 133 - 141.
[Full Text] [PDF]

Home page
 J. Immunol.Home page
E. Lach-Trifilieff, J. Marfurt, S. Schwarz, S. Sadallah, and J. A. Schifferli
Complement Receptor 1 (CD35) on Human Reticulocytes: Normal Expression in Systemic Lupus Erythematosus and HIV-Infected Patients
J. Immunol., June 15, 1999; 162(12): 7549 - 7554.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.