Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms

The role of the alternative pathway of complement activation in glomerular diseases

“…However, his later fate remained unknown. A homozygous mutation (Tyr1081Ter) in the C3 gene resulting in a deficient serum C3, reported in two Japanese sisters, who developed SLE-like symptoms (a high fever, butterfly rash, Raynaud phenomenon, intermittent arthralgia, and photosensitivity) at their adolescences was mentioned earlier [58]. The study on the largest patients' group of Japanese descent consisting finally of 509 SLE cases and 695 controls revealed that the rs7951 T allele was associated with a significant risk of SLE, including LN [59].…”

“…The common C3S/F comprises approximately 98% of all C3 phenotypes. To date, other C3 polymorphic variants have also been described (Table 1) [58][59][60][61][62].…”

“…In 2001, a homozygous mutation (Tyr1081Ter) in the C3 gene with the complete serum C3 deficiency was reported in two Japanese sisters, who developed SLE-like symptoms [58]. In 2008, Miyagawa et al [59] described an association between the SNP located in the exon 15 of C3 gene (C > T; rs7951) and serum concentration of C3, as well as susceptibility to SLE in the Japanese population.…”

The role of the alternative pathway of complement activation in glomerular diseases

“…However, his later fate remained unknown. A homozygous mutation (Tyr1081Ter) in the C3 gene resulting in a deficient serum C3, reported in two Japanese sisters, who developed SLE-like symptoms (a high fever, butterfly rash, Raynaud phenomenon, intermittent arthralgia, and photosensitivity) at their adolescences was mentioned earlier [58]. The study on the largest patients' group of Japanese descent consisting finally of 509 SLE cases and 695 controls revealed that the rs7951 T allele was associated with a significant risk of SLE, including LN [59].…”

“…The common C3S/F comprises approximately 98% of all C3 phenotypes. To date, other C3 polymorphic variants have also been described (Table 1) [58][59][60][61][62].…”

“…In 2001, a homozygous mutation (Tyr1081Ter) in the C3 gene with the complete serum C3 deficiency was reported in two Japanese sisters, who developed SLE-like symptoms [58]. In 2008, Miyagawa et al [59] described an association between the SNP located in the exon 15 of C3 gene (C > T; rs7951) and serum concentration of C3, as well as susceptibility to SLE in the Japanese population.…”

Clopidogrel-induced Thrombotic Microangiopathy in a Patient with Hypocomplementemia

“…The unique characteristic of this case was a decreased serum C3 level in contrast to a normal serum C4 level, and a low serum C3 level was generally observed in cases where the patient had a C3 deficiency or overactive alternative complement pathway. Previous reports indicated that patients with a C3 deficiency generally have a history of frequent infection and develop systemic lupus erythematosuslike symptoms (17)(18)(19). Their serum C3 level is often undetectable because it is very low, and their serum CH50 activity is !…”

Clinical Aspects and Molecular Basis of Primary Deficiencies of Complement Component C3 and its Regulatory Proteins Factor I and Factor H

“…Matsuyama et al . [64] described two sisters who present a G→T substitution at position 3303 of the C3 cDNA that causes a premature termination codon in exon 26.…”

The role of the alternative pathway of complement activation in glomerular diseases

“…However, his later fate remained unknown. A homozygous mutation (Tyr1081Ter) in the C3 gene resulting in a deficient serum C3, reported in two Japanese sisters, who developed SLE-like symptoms (a high fever, butterfly rash, Raynaud phenomenon, intermittent arthralgia, and photosensitivity) at their adolescences was mentioned earlier [58]. The study on the largest patients' group of Japanese descent consisting finally of 509 SLE cases and 695 controls revealed that the rs7951 T allele was associated with a significant risk of SLE, including LN [59].…”

“…The common C3S/F comprises approximately 98% of all C3 phenotypes. To date, other C3 polymorphic variants have also been described (Table 1) [58][59][60][61][62].…”

“…In 2001, a homozygous mutation (Tyr1081Ter) in the C3 gene with the complete serum C3 deficiency was reported in two Japanese sisters, who developed SLE-like symptoms [58]. In 2008, Miyagawa et al [59] described an association between the SNP located in the exon 15 of C3 gene (C > T; rs7951) and serum concentration of C3, as well as susceptibility to SLE in the Japanese population.…”

Clopidogrel-induced Thrombotic Microangiopathy in a Patient with Hypocomplementemia

“…The unique characteristic of this case was a decreased serum C3 level in contrast to a normal serum C4 level, and a low serum C3 level was generally observed in cases where the patient had a C3 deficiency or overactive alternative complement pathway. Previous reports indicated that patients with a C3 deficiency generally have a history of frequent infection and develop systemic lupus erythematosuslike symptoms (17)(18)(19). Their serum C3 level is often undetectable because it is very low, and their serum CH50 activity is !…”

Clinical Aspects and Molecular Basis of Primary Deficiencies of Complement Component C3 and its Regulatory Proteins Factor I and Factor H

“…Matsuyama et al . [64] described two sisters who present a G→T substitution at position 3303 of the C3 cDNA that causes a premature termination codon in exon 26.…”

The role of the alternative pathway of complement activation in glomerular diseases

“…However, his later fate remained unknown. A homozygous mutation (Tyr1081Ter) in the C3 gene resulting in a deficient serum C3, reported in two Japanese sisters, who developed SLE-like symptoms (a high fever, butterfly rash, Raynaud phenomenon, intermittent arthralgia, and photosensitivity) at their adolescences was mentioned earlier [58]. The study on the largest patients' group of Japanese descent consisting finally of 509 SLE cases and 695 controls revealed that the rs7951 T allele was associated with a significant risk of SLE, including LN [59].…”

“…The common C3S/F comprises approximately 98% of all C3 phenotypes. To date, other C3 polymorphic variants have also been described (Table 1) [58][59][60][61][62].…”

“…In 2001, a homozygous mutation (Tyr1081Ter) in the C3 gene with the complete serum C3 deficiency was reported in two Japanese sisters, who developed SLE-like symptoms [58]. In 2008, Miyagawa et al [59] described an association between the SNP located in the exon 15 of C3 gene (C > T; rs7951) and serum concentration of C3, as well as susceptibility to SLE in the Japanese population.…”

Clopidogrel-induced Thrombotic Microangiopathy in a Patient with Hypocomplementemia

“…The unique characteristic of this case was a decreased serum C3 level in contrast to a normal serum C4 level, and a low serum C3 level was generally observed in cases where the patient had a C3 deficiency or overactive alternative complement pathway. Previous reports indicated that patients with a C3 deficiency generally have a history of frequent infection and develop systemic lupus erythematosuslike symptoms (17)(18)(19). Their serum C3 level is often undetectable because it is very low, and their serum CH50 activity is !…”

Clinical Aspects and Molecular Basis of Primary Deficiencies of Complement Component C3 and its Regulatory Proteins Factor I and Factor H

“…Matsuyama et al . [64] described two sisters who present a G→T substitution at position 3303 of the C3 cDNA that causes a premature termination codon in exon 26.…”