The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: A case report

Pediatric Rheumatology

Volumn 11, Issue 1, 2013, Pages

  Higuchi, Yousuke ^a   Shimizu, Junya ^a   Hatanaka, Michiyo ^b   Kitano, Etsuko ^b   Kitamura, Hajime ^b   Takada, Hidetoshi ^c   Ishimura, Masataka ^c   Hara, Toshiro ^c   Ohara, Osamu ^d   Asagoe, Kenji ^a   Kubo, Toshihide ^a  

^a NATIONAL HOSPITAL ORGANIZATION OKAYAMA MEDICAL CENTER   (Japan)

^b KOBE TOKIWA UNIVERSITY   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

^d KAZUSA DNA RESEARCH INSTITUTE   (Japan)

Author keywords

C1q deficiency; Fresh frozen plasma; Hypocomplementemia; Novel mutation; Systemic lupus erythematosus

Indexed keywords

ANTINUCLEAR ANTIBODY; COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C1QB; FRESH FROZEN PLASMA; GENOMIC DNA; METHYLPREDNISOLONE; MIZORIBINE; PREDNISOLONE; RHEUMATOID FACTOR; UNCLASSIFIED DRUG;

ARTHRALGIA; ARTICLE; CASE REPORT; CHILD; COMPLEMENT ALTERNATIVE PATHWAY; COMPLEMENT BLOOD LEVEL; COMPLEMENT COMPONENT C1Q DEFICIENCY; COMPLEMENT DEFICIENCY; COMPLEMENT SYSTEM; DNA EXTRACTION; DRUG DOSE INCREASE; DRUG PULSE THERAPY; ERYTHROCYTE SEDIMENTATION RATE; EXON; FACE ERYTHEMA; FEMALE; GENE MUTATION; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; JAPANESE; MOLECULAR DIAGNOSIS; MOUTH ULCER; MUTATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT FEVER; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY; SPLICE SITE MUTATION; STEROID THERAPY; SYSTEMIC LUPUS ERYTHEMATOSUS;

EID: 84886121183     PISSN: None     EISSN: 15460096     Source Type: Journal    
DOI: 10.1186/1546-0096-11-41     Document Type: Article

References (26)

1. Kishore U, Reid KB. C1q: structure, function, and receptors. Immunopharmacology 2000, 49:159-170. 10.1016/S0162-3109(00)80301-X, 10904115.
2. Walport MJ, Davies KA, Botto M. C1q and systemic lupus erythematosus. Immunobiology 1998, 199:265-285. 10.1016/S0171-2985(98)80032-6, 9777411.
3. Walport MJ. Complement and systemic lupus erythematosus. Arthritis Res 2002, 4(Suppl 3):279-293.
4. Al-Mayouf SM, Abanomi H, Eldali A. Impact of C1q deficiency on the severity and outcome of childhood systemic lupus erythematosus. Int J Rheum Dis 2011, 14:81-85. 10.1111/j.1756-185X.2010.01574.x, 21303486.
5. Pickering MC, Botto M, Taylor PR, Lachmann PJ, Walport MJ. Systemic lupus erythematosus, complement deficiency, and apoptosis. Adv Immunol 2000, 76:227-324.
6. McAdam RA, Goundis D, Reid KB. A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. Immunogenetics 1988, 27:259-264. 10.1007/BF00376120, 2894352.
7. Schejbel L, Skattum L, Hagelberg S, Åhlin A, Schiller B, Berg S, Genel F, Truedsson L, Garred P. Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations. Genes Immun 2011, 12:626-634. 10.1038/gene.2011.39, 21654842.
8. Namjou B, Keddache M, Fletcher D, Dillon S, Kottyan L, Wiley G, Gaffney PM, Wakeland BE, Liang C, Wakeland EK, Scofield RH, Kaufman K, Harley JB. Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency. Lupus 2012, 21:1113-1118. 10.1177/0961203312443993, 3508769, 22472776.
9. Topaloglu R, Taskiran EZ, Tan C, Erman B, Ozaltin F, Sanal O. C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma. Clin Rheumatol 2012, 31:1123-1126. 10.1007/s10067-012-1978-4, 22576477.
10. Kobayashi E, Kitano E, Kitamura H. A novel assay for serum complement activity: C42 generation assay. Int Arch Allergy Immunol 1999, 120:71-77. 10.1159/000024222, 10529591.
11. Kitamura H, Nishimukai H, Sano Y, Nagaki K. Study on C3-like factor in the serum of a C3-deficient subject. Immunology 1984, 51:239-245. 1454427, 6693133.
12. Kitano E, Kitamura H. Dual effects of TNF on synthesis of complement components by a gastric cancer-derived cell line, KATO-III. Int Arch Allergy Immunol 1999, 119:54-59. 10.1159/000024175, 10341321.
13. Whaley K, North J. Haemolytic assays for whole complement activity and individual components. Complement: A Practical Approach 1997, 19-47. Oxford: IRL Press, Dodds AW, Sim RB.
14. Yurasov S, Wardemann H, Hammersen J, Tsuiji M, Meffre E, Pascual V, Nussenzweig MC. Defective B cell tolerance checkpoints in systemic lupus erythematosus. J Exp Med 2005, 201:703-711. 10.1084/jem.20042251, 2212839, 15738055.
15. Santer DM, Hall BE, George TC, Tangsombatvisit S, Liu CL, Arkwright PD, Elkon KB. C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes. J Immunol 2010, 185:4738-4749. 10.4049/jimmunol.1001731, 3065655, 20844193.
16. Naito AT, Sumida T, Nomura S, Liu ML, Higo T, Nakagawa A, Okada K, Sakai T, Hashimoto A, Hara Y, Shimizu I, Zhu W, Toko H, Katada A, Akazawa H, Oka T, Lee JK, Minamino T, Nagai T, Walsh K, Kikuchi A, Matsumoto M, Botto M, Shiojima I, Komuro I. Complement C1q activates canonical Wnt signaling and promotes aging-related phenotypes. Cell 2012, 149:1298-1313. 10.1016/j.cell.2012.03.047, 3529917, 22682250.
17. Manicassamy S, Reizis B, Ravindran R, Nakaya H, Salazar-Gonzalez RM, Wang YC, Pulendran B. Activation of beta-catenin in dendritic cells regulates immunity versus tolerance in the intestine. Science 2010, 329:849-853. 3732486, 20705860.
18. Xu Y, Banerjee D, Huelsken J, Birchmeier W, Sen JM. Deletion of beta-catenin impairs T cell development. Nat Immunol 2003, 4:1177-1182. 10.1038/ni1008, 14608382.
19. Nishino H, Shibuya K, Nishida Y, Mushimoto M. Lupus erythematosus-like syndrome with selective complete deficiency of C1q. Ann Intern Med 1981, 95:322-324. 10.7326/0003-4819-95-3-322, 7271093.
20. Uenaka A, Akimoto T, Aoki T, Tsuyuguchi I, Nagaki K. A complete selective C1q deficiency in a patient with discoid lupus erythematosus (DLE). Clin Exp Immunol 1982, 48:353-358. 1536469, 6980744.
21. Orihara T, Tsuchiya K, Yamasaki S, Furuya T. Selective C1q deficiency in a patient with systemic lupus erythematosus. Br J Dermatol 1987, 117:247-254. 10.1111/j.1365-2133.1987.tb04124.x, 3498507.
22. Hayakawa J, Migita M, Ueda T, Itoh Y, Fukunaga Y. Infantile case of early manifestation of SLE-like symptoms in complete C1q deficiency. J Nippon Med Sch 2011, 78:322-328. 10.1272/jnms.78.322, 22041880.
23. Vassallo G, Newton RW, Chieng SE, Haeney MR, Shabani A, Arkwright PD. Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. Rheumatology (Oxford) 2007, 46:1612-1614. 10.1093/rheumatology/kem207, 17890276.
24. Mehta P, Norsworthy PJ, Hall AE, Kelly SJ, Walport MJ, Botto M, Pickering MC. SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience. Rheumatology (Oxford) 2010, 49:823-824. 10.1093/rheumatology/kep387, 19965977.
25. Cortes-Hernandez J, Fossati-Jimack L, Petry F, Loos M, Izui S, Walport MJ, Cook HT, Botto M. Restoration of C1q levels by bone marrow transplantation attenuates autoimmune disease associated with C1q deficiency in mice. Eur J Immunol 2004, 34:3713-3722. 10.1002/eji.200425616, 15517607.
26. Bowness P, Davies KA, Norsworthy PJ, Athanassiou P, Taylor-wiedeman J, Borysiewicz LK, Meyer PAR, Walport MJ. Hereditary C1q deficiency and systemic lupus erythematosus. QJM 1994, 87:455-464.