Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections. 1989

W Nürnberger, and H Pietsch, and R Seger, and T Bufon, and V Wahn
Abteilung für Neonatologie und Gastroenterologie der Universität, Düsseldorf, Federal Republic of Germany.

We describe an 11-year-old girl suffering from recurrent meningitis with a complete absence of the seventh component of complement (C7). Diagnosis was established by haemolytic titration and western blotting. The patient's serum lacked the 85 kDa C7 chain. Haemolytic activity of serum was reconstituted with either pooled normal human serum or with purified C7. The relatives (parents and one sister) had half-normal levels of both immunochemically and functionally determined C7, indicating a heterozygous state for C7 deficiency.

UI MeSH Term Description Entries
D008585 Meningitis, Meningococcal A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8) Meningitis, Neisseria,Neisseria Meningitis,Meningitis, Meningococcal, Serogroup A,Meningitis, Meningococcal, Serogroup B,Meningitis, Meningococcal, Serogroup C,Meningitis, Meningococcal, Serogroup W-135,Meningitis, Meningococcal, Serogroup W135,Meningitis, Meningococcal, Serogroup Y,Meningitis, Meningococcic,Meningococcal Meningitis, Serogroup A,Meningococcal Meningitis, Serogroup B,Meningococcal Meningitis, Serogroup C,Meningococcal Meningitis, Serogroup W-135,Meningococcal Meningitis, Serogroup W135,Meningococcal Meningitis, Serogroup Y,Serogroup A Meningococcal Meningitis,Serogroup B Meningococcal Meningitis,Serogroup C Meningococcal Meningitis,Serogroup W-135, Meningococcal Meningitis,Serogroup W135, Meningococcal Meningitis,Serogroup Y, Meningococcal Meningitis,Meningococcal Meningitis,Meningococcal Meningitis, Serogroup W 135,Neisseria Meningitides,Serogroup W 135, Meningococcal Meningitis
D012008 Recurrence The return of a sign, symptom, or disease after a remission. Recrudescence,Relapse,Recrudescences,Recurrences,Relapses
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003184 Complement C7 A 93-kDa serum glycoprotein encoded by C7 gene. It is a polypeptide chain with 28 disulfide bridges. In the formation of MEMBRANE ATTACK COMPLEX; C7 is the next component to bind the C5b-6 complex forming a trimolecular complex C5b-7 which is lipophilic, resembles an integral membrane protein, and serves as an anchor for the late complement components, C8 and C9. C7 Complement,Complement 7,Complement Component 7,C7, Complement,Complement, C7,Component 7, Complement
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015153 Blotting, Western Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes. Immunoblotting, Western,Western Blotting,Western Immunoblotting,Blot, Western,Immunoblot, Western,Western Blot,Western Immunoblot,Blots, Western,Blottings, Western,Immunoblots, Western,Immunoblottings, Western,Western Blots,Western Blottings,Western Immunoblots,Western Immunoblottings

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