The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency

Blood Cells, Molecules, and Diseases - Tập 40 - Trang 410-413 - 2008
Miyuki Kida1, Hirotaka Fujioka2, Yoshiyuki Kosaka3, Kouhei Hayashi3, Yukio Sakiyama4, Tadashi Ariga1
1Department of Pediatrics, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, Hokkaido, Japan
2Department of Plastic Surgery, Bibai Rousai Hospital, Hokkaido, Japan
3Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan
4Department of Human Gene Therapy, Hokkaido University Graduate School of Medicine, Hokkaido, Japan

Tài liệu tham khảo

Botto, 1990, Molecular basis of hereditary C3 deficiency, J. Clin. Invest., 86, 1158, 10.1172/JCI114821 Botto, 1992, Homozygous hereditary C3 deficiency due to a partial gene deletion, Proc. Natl. Acad. Sci. U. S. A., 89, 4957, 10.1073/pnas.89.11.4957 Fujioka, 2005, A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene, Am. J. Med. Genet. A, 138, 399, 10.1002/ajmg.a.30964 Huang, 1994, A hereditary C3 deficiency due to aberrant splicing of exon 10, Clin. Immunol. Immunopathol., 73, 267, 10.1006/clin.1994.1197 Singer, 1994, Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion, J. Biol. Chem., 269, 28494, 10.1016/S0021-9258(18)46954-2 Tsukamoto, 2000, Molecular analysis of human complement C3 deficiency with systemic lupus erythematosus, Jpn. J. Rheumatol., 40, 418 Matsuyama, 2001, Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters, Intern. Med., 40, 1254, 10.2169/internalmedicine.40.1254 Da Silva Reis, 2002, Homozygous hereditary C3 deficiency due to a premature stop codon, J. Clin. Immunol., 22, 321, 10.1023/A:1020665614139 de Bruijn, 1985, Human complement component C3 cDNA cording sequence and derived primary structure, Proc. Natl. Acad. Sci., 82, 708, 10.1073/pnas.82.3.708 Fong, 1990, Genomic organization of human complement component C3, Genomics, 7, 579, 10.1016/0888-7543(90)90202-6