C9 Deficiency

01/01/2005 - "It is therefore necessary to consider the possibility of C9 deficiency in the interpretation of unexpectedly low complement-mediated hemolytic activity in East Asians."
11/01/1992 - "The C9 deficiency was discovered either through mass complement screening, or when low hemolytic activity for CH50 and normal C3 levels were detected in plasma. "
01/01/1989 - "From these results, not only C9 deficiency but also deficiencies of the other late-acting complement components were found among the healthy blood donors, but no early-acting component deficiencies were noted."
11/01/1990 - "This first case of recurrent meningitis in a white patient with complete C9 deficiency suggests that this complement defect may also be a risk factor for bacterial, especially neisserial, infections."
03/01/2003 - "An abnormal but functionally active complement component C9 protein found in an Irish family with subtotal C9 deficiency."

03/01/2012 - "Complement component 9 (C9) deficiency is relatively common, especially in Japan. "
12/01/2000 - "Behçet's disease associated with complement component 9 (C9) deficiency."
01/01/2000 - "Almost all complement component 9 (C9) deficiency in Japan shows Arg95 Stop mutation of C9 gene. "
02/01/2011 - "Arg95Stop mutation of exon 4 in complement component 9 (C9) gene is common in individuals in Japan with C9 deficiency (C9D); however, understanding of the influences of C9D on human glomerulonephritis remains elusive. "
11/01/1987 - "Antibodies to the ninth component of complement (C9) were found in a patient with hereditary C9 deficiency (C9D) who had received multiple transfusions. "

01/01/1999 - "Genetic analyses of Japanese C9 deficiency have shown that a C-to-T transition leading to TGA stop codon for Arg95 in exon 4 of the C9 gene (Arg95Stop) is common in Japanese C9 deficiency. "
06/01/1998 - "The common mutation at codon 95 in exon 4 might be responsible for most Japanese C9 deficiency."
03/01/2003 - "A nonsense mutation at codon 95 (R95X) in the C9 gene is responsible for most Japanese C9 deficiency (C9D) cases, with a carrier frequency of 6.7%. "

12/01/2000 - "We report a case of Behçet's disease associated with complete C9 deficiency (C9D) carrying the homozygous nonsense mutation at Arg-95 of C9 (R95X). "
03/01/2003 - "A nonsense mutation at codon 95 (R95X) in the C9 gene is responsible for most Japanese C9 deficiency (C9D) cases, with a carrier frequency of 6.7%. "

06/01/1994 - "In 1980, at 41 years of age, she had proteinuria and facial erythema along with low level of CH50 less than 12.0 U/ml. She was diagnosed as C9 deficiency (C9D) because of C9 protein less than 0.5 mg/dl, C9 activity 0.03% and C8 activity 94% and also SLE was strongly suspicious. "
03/01/2003 - "An abnormal but functionally active complement component C9 protein found in an Irish family with subtotal C9 deficiency."

12/06/2010 - "After identifying candidates in both groups with complement deficiencies using the Wielisa®-kit, 16 sera (8.8%) with mannose-binding lectin (MBL) deficiency, 1 serum (0.4%) with C4 deficiency, 1 serum (0.4%) with C9 deficiency, and 1 serum (0.4%) with B deficiency were observed in the HD group, and 18 sera (8.8%) with MBL deficiency and 1 serum (0.5%) with B deficiency were observed in the control group. "

05/15/1997 - "As a cause of C9 deficiency, we found two different point mutations, both generating TGA stop codons in the coding sequence. "

05/15/2000 - "Unsensitized muscles were incubated at 30 degrees C for 60 min in the media containing 10% human or rat serum under conditions of no complement activation, activation by zymosan, inactivation by heat, C7 or C9 deficiency, selective inhibition of complement pathway, and inhibition of Na(+)-K(+) ATPase by ouabain. "

03/01/2012 - "Successful pregnancy in a patient suffering from recurrent mid-trimester miscarriage with C9 deficiency after receiving cervical cerclage followed by clindamycin and progesterone: a case report."

05/15/2000 - "Unsensitized muscles were incubated at 30 degrees C for 60 min in the media containing 10% human or rat serum under conditions of no complement activation, activation by zymosan, inactivation by heat, C7 or C9 deficiency, selective inhibition of complement pathway, and inhibition of Na(+)-K(+) ATPase by ouabain. "

03/01/2012 - "Successful pregnancy in a patient suffering from recurrent mid-trimester miscarriage with C9 deficiency after receiving cervical cerclage followed by clindamycin and progesterone: a case report."