Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family
| Autor: | Prochazka E, Lehner-Netsch G, Simard J, P. Bergeron, J M Delâge |
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| Rok vydání: | 1977 |
| Předmět: |
Adult
Immunodiffusion Genotype Human leukocyte antigen Histocompatibility Testing Immunoelectrophoresis Biology Hemolysis HLA Antigens medicine Humans Spondylitis Ankylosing Spondylitis Opsonin Ankylosing spondylitis medicine.diagnostic_test Homozygote Heterozygote advantage Complement System Proteins General Medicine Opsonin Proteins medicine.disease Complement C7 Pedigree Immunology Female Research Article |
| Zdroj: | Journal of Clinical Investigation. 60:1061-1069 |
| ISSN: | 0021-9738 |
| DOI: | 10.1172/jci108857 |
| Popis: | The serum of a 44-yr-old woman of French-Canadian descent having a B-27 positive ankylosing spondylitis was deficient in the seventh component of complement (C7) as determined by hemolytic and immunochemical methods. No inhibitor against C7 was detected, and the levels of all other complement components were normal. No deficiency in the opsonic activity of the serum was found, and the results of basic coagulation studies of the plasma were normal. On investigation of the patient's family, two sisters were found to have the same deficiency but were otherwise in good health. The seven other siblings were heterozygous for C7 deficiency, while the paternal aunt had a normal C7 level. In the third generation, six children of the three homozygous sisters and five children of heterozygotes were available for testing. Studies of the HLA antigens in all the 22 subjects and in three spouses indicated no close linkage between the CM deficienty and the HLA system. In addition, the simultaneous occurrence of two hereditary complement deficiencies (C2 and C7) was discovered in one family of this remarkable kindred. |
| Databáze: | OpenAIRE |
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