Properdin deficiency in a family with fulminant meningococcal infections

Three males in a large family showed a selective deficiency of properdin (P). One of the P deficient individuals died from a fulminant infection with Neisseria meningitidis group C. The family history revealed three previous cases of similar infections with a fatal outcome. The deficiency did not ap...

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Bibliographic Details
Published in:Clinical and experimental immunology 1982-11, Vol.50 (2), p.291-297
Main Authors: Sjöholm, A G, Braconier, J H, Söderström, C
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Child, Preschool
Complement C3 - analysis
Complement System Proteins - deficiency
Female
Humans
Immunoelectrophoresis, Two-Dimensional
Immunoglobulins - analysis
Male
Meningococcal Infections - genetics
Meningococcal Infections - immunology
Neisseria meningitidis
Pedigree
Properdin - deficiency
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Summary:Three males in a large family showed a selective deficiency of properdin (P). One of the P deficient individuals died from a fulminant infection with Neisseria meningitidis group C. The family history revealed three previous cases of similar infections with a fatal outcome. The deficiency did not appear to be associated with repeated bacterial infections. The pattern of inheritance suggested an X-linked mode of transmittance. However, heterozygous carriers were not clearly distinguished in the family. P deficient serum supported immune haemolysis in a normal fashion. Alternative pathway functions, such as the activation of C3 by inulin or zymosan, lysis of guinea-pig erythrocytes in agarose gel and opsonization of endotoxin coated oil particles, were grossly impaired in P deficient serum while efficient C3 activation was produced by addition of cobra venom factor.
ISSN:0009-9104
1365-2249