Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency

Rheumatology

Volumn 46, Issue 10, 2007, Pages 1612-1614

  Vassallo, G ^a   Newton, R W ^a   Chieng, S E ^a   Haeney, M R ^b   Shabani, A ^a   Arkwright, Peter D ^a,c  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b HOPE HOSPITAL   (United Kingdom)

^c BOOTH HALL CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

C1q; Complement; Meningitis; SLE; Vasculitis

Indexed keywords

AMOXICILLIN; AUTOANTIBODY; COMPLEMENT COMPONENT C1Q ANTIBODY; CORTICOSTEROID; CYCLOPHOSPHAMIDE; DOUBLE STRANDED DNA ANTIBODY; HYDROXYCHLOROQUINE; IMMUNOGLOBULIN; MEPACRINE; METHYLPREDNISOLONE; RO ANTIBODY; SM ANTIBODY;

ADOLESCENT; ADULT; ANAMNESIS; ANTIBODY DETECTION; ARTICLE; BACTERIAL INFECTION; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEMENT COMPONENT C1Q DEFICIENCY; COMPLEMENT DEFICIENCY; CONSANGUINITY; DEATH; DISCOID LUPUS ERYTHEMATOSUS; DRUG DOSE REDUCTION; DRUG MEGADOSE; DRUG RESPONSE; FAMILY STUDY; GLOMERULONEPHRITIS; HUMAN; HUMAN TISSUE; IMMUNOASSAY; KIDNEY BIOPSY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTAN; PRIORITY JOURNAL; RENAL REPLACEMENT THERAPY; SCHOOL CHILD; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADOLESCENT; ADULT; ANGIOEDEMA, HEREDITARY; AUTOANTIBODIES; CHILD; COMPLEMENT C1Q; HUMANS; LUPUS ERYTHEMATOSUS, DISCOID; LUPUS NEPHRITIS; LUPUS VASCULITIS, CENTRAL NERVOUS SYSTEM; MAGNETIC RESONANCE IMAGING; MALE; MENINGITIS, PNEUMOCOCCAL; OPPORTUNISTIC INFECTIONS; PEDIGREE; VASCULITIS;

EID: 34848852711     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kem207     Document Type: Article

References (16)

1. Taylor PR, Carugati A, Fadok VA et al. A hierarchical role for classical pathway complement proteins in the clearance of apoptotic cells in vivo. J Exp Med 2000;192:359-66.
2. Thompson RA, Haeney M, Reid KB, Davies JG, White RH, Cameron AH. A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis. New Engl J Med 1980;303:22-24.
3. Arkwright PD, Abinun A, Cant AJ. Autoimmunity in primary immunodeficiency diseases. Blood 2002;99:2694-702.
4. Mayer MM. Complement and complement fixation. In: Kabat EA ed. Experimental immunochemistry. Springfield, IL: Charles C Thomas, 1961:133-58.
5. Trevisani VF, Castro AA, Neves Neto JF, Atallah AN. Cyclophosphamide versus methylprednisolone for treating neuropsychiatric involvement in systemic lupus erythematosus. Cochrane Database Syst Rev. 2006;Apr 19: CD002265.
6. Steinsson K, McLean RH, Merrow M, Rothfield NF, Weinstein A. Selective complete C1q deficiency associated with systemic lupus erythematosus. J Rheumatol 1983;10:590-4.
7. Stone NM, Williams A, Wilkinson JD, Bird G. Systemic lupus erythematosus with C1q deficiency. Br J Dermatol 2000;142:521-4.
8. Janwityanuchit S, Verasertniyom O, Vanichapuntu M, Vatanasuk M. Anti-Sm: its predictive value in systemic lupus erythematosus. Clin Rhematol 1993;12:350-3.
9. Senecal JL, Raymond Y. The pathogenesis of neuropsychiatric manifestations in systemic lupus erythematosus: A disease in search of autoantibodies, or autoantibodies in search of a disease? J Rheumatol 2004;31:2093-8.
10. Pugin D, Copin JC, Goodyear MC, Landis T, Gasche Y. Persisting vasculitis after pneumococcal meningitis. Neurocrit Care 2006;4:237-40.
11. Hoppenreijs EP, van Dijken PJ, Kabel PJ, Draaisma JM. Hereditary C1q deficiency and secondary Sjogren's syndrome. Ann Rheum Dis 2004;63:1524-5.
12. Hermann H, Fabrizio P, Raker VA et al. SnRNP Sm proteins share two evolutionarily conserved sequence motifs which are involved in Sm protein-protein interactions. EMBO J 1995;14:2076-88.
13. Deshmukh US, Bagavant H, Lewis J, Gaskin F, Fu SM. Epitope spreading within lupus-associated ribonucleoprotein antigens. Clin Immunol 2005;117:112-20.
14. Keith MP, Moratz C, Tsokos GC. Anti-RNP immunity: Implications for tissue injury and the pathogenesis of connective tissue disease. Autoimmunity Rev 2007;6:232-6.
15. Meyer O, Hauptmann G, Tappeiner G, Ochs HD, Mascart-Lemone F. Genetic deficiency of C4, C2 or C1q and lupus syndromes. Association with anti-Ro (SS-A) antibodies. Clin Exp Immunol 1985;62:678-84.
16. Malmegrim de Farias KC, Saelens X, Pruijn GJ, Vandenabeele P, van Venrooij WJ. Caspase-mediated cleavage of the U snRNP-associated Sm-F protein during apoptosis. Cell Death Differ 2003;10:570-9.