Complement Component 7 Deficiency

09/01/1992 - "C7 M/N typing, the determination of the complement component C7 M/N phenotypes, was successfully used in family studies to trace haplotypes bearing C7 deficiency genes. "
10/01/1978 - "[Double C2 and C7 deficiency in the same subject: study of complement and HL-A system]."
12/01/2004 - "Complement component C7 deficiency in two Spanish families."
08/01/2003 - "Complement component C7 deficiency in a Spanish family."
07/01/1980 - "Familial late complement component (C6, C7) deficiency with chronic meningococcemia."

05/01/2007 - "Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited."
01/01/1999 - "Five new polymorphisms in the complement C7 gene and their association with C7 deficiency."
01/01/2023 - "Recurrent Neisseria meningitidis is frequently associated with terminal complement protein deficiency, including Complement component 7. This report discusses the first case of C7 deficiency in Qatar. "
03/01/2013 - "Complement component 7 (C7) deficiency leads to the loss of complement lytic function, and affected patients show increased susceptibility to encapsulated organisms infection, especially Neisseria meningitidis. "

04/01/2005 - "Recently we experienced an 11-yr-old girl with meningococcal meningitis who was diagnosed as having C7 deficiency based upon the undetectable serum C7 protein on radial immunodiffusion and the undetectable serum total and C7 hemolytic activities. "
03/01/2013 - "Recently, we have experienced a 20-year-old military trainee with meningococcal sepsis and meningitis who was diagnosed as having C7 deficiency based upon the undetectable serum C7 protein on radioimmunoassay. "
10/01/1994 - "C7 M/N protein polymorphism allotyping, used to investigate the segregation of the C7 deficiency genes, showed that the apparently complement sufficient brother was heterozygous C7 deficient and a carrier of one of the deficiency genes. "

08/28/2019 - "Recessive dystrophic epidermolysis bullosa (RDEB) is a severe congenital skin fragility disease caused by COL7A1 mutations that result in type VII collagen (C7) deficiency. "
11/16/2022 - "Base editing introduces precise single-nucleotide edits in genomic DNA and has the potential to treat genetic diseases such as the blistering skin disease recessive dystrophic epidermolysis bullosa (RDEB), which is characterized by mutations in the COL7A1 gene and type VII collagen (C7) deficiency. "

03/26/2005 - "Forty cases were studied, including 35 classical pathway protein deficiencies, with a predominance of C7 deficiency, 3 properdin deficiencies and 2 acquired C3 deficiencies. "
01/01/2006 - "Complement deficiency was found in eight patients (13%): Seven had late complement component deficiency (three C7 deficiency, two C5 deficiency, one C6 deficiency and one C8 deficiency) and one had partial properdin deficiency. "

04/01/2005 - "To identify the genetic basis of the C7 deficiency of the patient, we performed a mutation analysis for the C7 gene and found two novel mutations; a point mutation at the 3' splice acceptor site of intron 4 (c.281-1G>T) and a large deletion mutation encompassing almost the whole C7 gene from exon 1 to exon 17 (c.1-?_2350+?del). "

05/01/2012 - "Meningococcal polysaccharide vaccine failure in a patient with C7 deficiency and a decreased anti-capsular antibody response."

01/01/1999 - "A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency."

02/01/1989 - "C7-consuming activity was demonstrated in the native serum of the patient with complete C7 deficiency, and it was found that large amounts of C56 were readily generated upon incubation of the patient's serum with zymosan. "

08/01/2017 - "Thirty-six had experienced a first invasive episode and a PID was diagnosed in seven (19%): two cases of common variable immunodeficiency revealed by SP bacteraemia, one case of idiopathic primary hypogammaglobulinaemia, and two cases of complement (C6 and C7) deficiency revealed by NM meningitis, one case of IgG2/IgG4 subclasses deficiency revealed by GAS bacteraemia, and one case of specific polysaccharide antibody deficiency revealed by HI meningitis. "