Search results for "C5 Deficiency"
showing 4 items of 4 documents
Characterization of the Purified Fourth Component of Guinea Pig Complement* *Supported by Deutsche Forschungsgemeinschaft (grant Kl 124/9).
1970
Publisher Summary A strain of rabbits deficient in complement was discovered in Freiburg, Germany in 1961. A second, clearly unrelated, strain was reported in Mexico. Both these strains are deficient in C6. A further complement-deficient rabbit was found by chance in Cambridge. This paper presents some data on the colony bred from this animal. C6 was partially purified from rabbit serum by chromatography on DEAE Cellulose and hydroxyapatite. Antibody to rabbit C6 in deficient rabbits was raised by four weekly injections of alum precipitated C6 with Bordetella pertussis as adjuvant into the knee joints, followed by three intravenous injections of the alum precipitated material without B. per…
Combined complete C5 and partial C4 deficiency in humans: clinical consequences and complement-mediated functions in vitro.
1990
A family is described with two siblings who suffered at different times from a single episode of meningococcal meningitis by Neisseria meningitidis groups B and C, respectively. In the two subjects, hemolytically active fifth component of complement (C5) was not detectable and antigenic C5 was less than 0.05% and less than 0.7% of normal, respectively. Repletion of sera by purified human C5 (70 micrograms/ml) restored total complement hemolytic activities. The asymptomatic first degree family members had C5 levels compatible with a heterozygous state of C5 deficiency. C4 allotyping revealed an inherited partial deficiency (Q0) of C4A and C4B in the family with a combined C4AQ0 and C4BQ0 het…
Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.
1992
Three families are described with complement component deficiencies. In one family, five children had C5 deficiency; in a second family, two children had C8 deficiency and one child in a third family had C3 deficiency. The index cases were identified during screening of patients with recurrent pyogenic infections, recurrent meningitis and meningococcaemia. Two of the five C5 deficient patients had recurrent meningitis and meningococcaemia, two had recurrent respiratory tract infections and otitis and one was healthy. One of the C8 deficient patients had meningitis, meningococcaemia and pneumonia, whereas his sibling with the same deficiency was healthy. The patient with C3 deficiency had fo…
Linking C5 deficiency to an exonic splicing enhancer mutation
2005
Abstract As an important component of the innate immune system, complement provides the initial response to prevent infections by pathogenic microorganisms. Patients with dysfunction of C5 display a propensity for severe recurrent infections. In this study, we present a patient with C5 deficiency demonstrated by immunochemical and functional analyses. Direct sequencing of all C5 exons displayed no mutation of obvious functional significance, except for an A to G transition in exon 10 predicting an exchange from lysine to arginine. This sequence alteration was present in only one allele of family members with a reduced serum C5 concentration and in both alleles of the patient with almost com…