Complete and partial deficiencies of complement factor D in a Dutch family.

P S Hiemstra; E Langeler; B Compier; Y Keepers; P C Leijh; M T van den Barselaar; D Overbosch; M R Daha

doi:10.1172/JCI114384

Department of Nephrology, University Hospital Leiden, The Netherlands.

Find articles by Hiemstra, P. in: JCI | PubMed | Google Scholar

Department of Nephrology, University Hospital Leiden, The Netherlands.

Find articles by Langeler, E. in: JCI | PubMed | Google Scholar

Department of Nephrology, University Hospital Leiden, The Netherlands.

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

Department of Nephrology, University Hospital Leiden, The Netherlands.

Find articles by Keepers, Y. in: JCI | PubMed | Google Scholar

Department of Nephrology, University Hospital Leiden, The Netherlands.

Find articles by Leijh, P. in: JCI | PubMed | Google Scholar

Department of Nephrology, University Hospital Leiden, The Netherlands.

Find articles by van den Barselaar, M. in: JCI | PubMed | Google Scholar

Department of Nephrology, University Hospital Leiden, The Netherlands.

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

Department of Nephrology, University Hospital Leiden, The Netherlands.

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

Published in Volume 84, Issue 6 on December 1, 1989
J Clin Invest. 1989;84(6):1957–1961. https://doi.org/10.1172/JCI114384.
© 1989 The American Society for Clinical Investigation

Published December 1, 1989 - Version history

A young man suffering from recurrent Neisseria infections was shown to lack detectable serum complement factor D hemolytic activity. Addition to the patient's serum of purified factor D to a final concentration of 1 microgram/ml resulted in full restoration of the activity of the alternative pathway. Using an enzyme-linked immunosorbent assay, it was shown that the patient's serum did not contain measurable amounts of factor D antigen either. The sister, the father, as well as the parents of the mother had factor D levels within the normal range, and the factor D level of the mother was decreased. The capacity of the patient's serum, at concentrations up to 5%, to promote phagocytosis of Escherichia coli by normal human granulocytes was low when compared to normal serum. Substitution of the patient's serum with purified factor D resulted in a full restoration of opsonic activity. This study describes the first complete deficiency of factor D, and demonstrates its possible relation to recurrent Neisseria infections.