Familial properdin deficiency associated with chronic discoid lupus erythematosus.
A large family comprised of 18 members is described. Four male members are properdin-deficient, all are healthy bar the index patient who presented with chronic discoid lupus erythematosus. Serum from properdin-deficient males had a reduced ability to lyse rabbit erythrocytes via the alternative pathway or solubilize pre-formed immune complexes. Addition of purified properdin restored these activities. Classical pathway activity was normal. Definite, probable and possible female carriers had normal classical and alternative pathway activities.
Holme
E R
ER
University of Glasgow, Department of Pathology.
Veitch
J
J
Johnston
A
A
Hauptmann
G
G
Uring-Lambert
B
B
Seywright
M
M
Docherty
V
V
Morley
W N
WN
Whaley
K
K
D005190:Family; D006801:Humans; D008179:Lupus Erythematosus, Discoid / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011414:Properdin / Q000172:deficiency*
D011414:Properdin