- databases for immunodeficiency-causing variations

   Variation registry for  Factor D deficiency

CFDbase mutation publications

[2006] [2001]

Search PubMed latest citations for CFD mutations


  • Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.
    Sprong T, Roos D, Weemaes C, Neeleman C, Geesing CL, Mollnes TE, van Deuren M
    Blood 2006(12): 4865-70 [PubMed abstract].


  • A family with complement factor D deficiency.
    Biesma DH, Hannema AJ, van Velzen-Blad H, Mulder L, van Zwieten R, Kluijt I, Roos D
    J Clin Invest 2001(2): 233-40 [PubMed abstract].