Literature DB >> 468307

Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family.

J M Delâge, G Lehner-Netsch, R Lafleur, J Simard, G Brun, E Prochazka.   

Abstract

The sera of four sisters were found to lack the sixth component of complement (C6) and the serum of one was also partially deficient in the second component (C2). Two other blood relatives were found to be heterozygous for both deficiencies, while only one sibling had normal values. The father of these eight siblings was heterozygous for C2D and C6D and in the third generation, six children were heterozygous for C6 deficiency was treated for chronic active brucel-transmitted; the C6 deficiency was not linked to the HLA system, while the C2-deficiency segregated with the haplotype A10,B18. The proband, homozygous for C6 deficiency was treated for chronic active Brucellosis and in another sibling with C6 deficiency, toxoplasmosis was diagnosed. Neither bleeding disorders nor a tendency to collagen diseases have been observed and the opsonic activity was normal in the sera of all family members.

Entities:  

Mesh:

Substances:

Year:  1979        PMID: 468307      PMCID: PMC1457517     

Source DB:  PubMed          Journal:  Immunology        ISSN: 0019-2805            Impact factor:   7.397


  14 in total

1.  Toxoplasmosis dangerous in complement deficiency.

Authors:  H A Feldman; R Schreiber
Journal:  N Engl J Med       Date:  1977-12-22       Impact factor: 91.245

Review 2.  Complement testing in the diagnosis of immune and autoimmune diseases.

Authors:  P H Schur
Journal:  Am J Clin Pathol       Date:  1977-11       Impact factor: 2.493

3.  Genetic deficiency of the second component of complement (C2) associated with systemic lupus erythematosus. Relation of the complement abnormality and disease manifestations.

Authors:  R I Rynes; R E Urizar; R J Pickering
Journal:  Am J Med       Date:  1977-08       Impact factor: 4.965

Review 4.  Genetics of the complement system.

Authors:  C A Alper; F S Rosen
Journal:  Adv Hum Genet       Date:  1976

5.  Inherited deficiency of the second component of complement. Rheumatic disease associations.

Authors:  D Glass; D Raum; D Gibson; J S Stillman; P H Schur
Journal:  J Clin Invest       Date:  1976-10       Impact factor: 14.808

6.  Inherited deficiency of the sixth component of complement: a silent or null gene.

Authors:  D Glass; D Raum; D Balavitch; E Kagan; A Rabson; P H Schur; C A Alper
Journal:  J Immunol       Date:  1978-02       Impact factor: 5.422

7.  Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

Authors:  J M Delâge; P Bergeron; J Simard; G Lehner-Netsch; E Prochazka
Journal:  J Clin Invest       Date:  1977-11       Impact factor: 14.808

8.  Hereditary C2 deficiency: Genetic studies and association with the HL-A system.

Authors:  N K Day; R L'Esperance; R A Good; A F Michael; J A Hansen; B Dupont; C Jersild
Journal:  J Exp Med       Date:  1975-06-01       Impact factor: 14.307

9.  A blood coagulation abnormality in rabbits deficient in the sixth component of complement (C6) and its correction by purified C6.

Authors:  T S Zimmerman; C M Arroyove; H J Müller-Eberhard
Journal:  J Exp Med       Date:  1971-12-01       Impact factor: 14.307

10.  Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement.

Authors:  S M Fu; H G Kunkel; H P Brusman; F H Allen; M Fotino
Journal:  J Exp Med       Date:  1974-10-01       Impact factor: 14.307

View more
  7 in total

1.  C3b inactivator deficiency with immune complex manifestations.

Authors:  P Solal-Celigny; M Laviolette; J Hebert; P C Atkins; M Sirois; G Brun; G Lehner-Netsch; J M Delâge
Journal:  Clin Exp Immunol       Date:  1982-01       Impact factor: 4.330

2.  Functionally active complement proteins C6 and C7 detected in C6- and C7-deficient individuals.

Authors:  R Würzner; A Orren; P Potter; B P Morgan; D Ponard; P Späth; M Brai; M Schulze; L Happe; O Götze
Journal:  Clin Exp Immunol       Date:  1991-03       Impact factor: 4.330

3.  A case of hereditary combined deficiency of complement components C6 and C7 in man.

Authors:  B P Morgan; J P Vora; A J Bennett; J P Thomas; N Matthews
Journal:  Clin Exp Immunol       Date:  1989-03       Impact factor: 4.330

4.  Hereditary C6 deficiency in a strain of PVG/c rats.

Authors:  P L Leenaerts; R K Stad; B M Hall; B J Van Damme; Y Vanrenterghem; M R Daha
Journal:  Clin Exp Immunol       Date:  1994-09       Impact factor: 4.330

5.  Familial C1q deficiency associated with renal and cutaneous disease.

Authors:  F Leyva-Cobián; I Moneo; F Mampaso; M Sánchez-Bayle; J L Ecija; A Bootello
Journal:  Clin Exp Immunol       Date:  1981-04       Impact factor: 4.330

6.  Combined hereditary deficiency of the sixth component of complement and factor VIII coagulant activity in a Dutch family.

Authors:  M R Daha; R M Bertina; J Thompson; R H Kauffmann; A Nicholson-Weller; J J Veltkamp; E Briët
Journal:  Clin Exp Immunol       Date:  1982-06       Impact factor: 4.330

7.  Defective activation of the alternative pathway of complement in patients with homozygous C2 deficiency: studies in two unrelated families.

Authors:  R Schwertz; E Esser; R A Seger; A Rubinstein; G Hauptmann; V Wahn
Journal:  Eur J Pediatr       Date:  1991-07       Impact factor: 3.183

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.