Complement factor 2 deficiency: a clinical and serological family study.

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Complement factor 2 deficiency: serological family study

Inherited complement deficiencies are associated with a variety of connective tissue diseases. A family with inherited deficiency of complement factor 2 (C2) is described in which two family members with homozygous C2 deficiency developed cutaneous vasculitis and siccasyndrome. The otherfamily members had heterozygous C2 deficiency and each member had the HLA-A25, B18, DR2 (w15) haplotype. The ...

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Fletcher factor deficiency: family study and detection.

Eight of 1 1 children of a known Fletcher taming celite or kaolin were sensitive to factor-deficient individual were found to Fletcher factor deficiency, while one rehave normal activated partial thromboagent containing ellagic acid did not deplastin times, normal levels of factors VIII, tect this abnormality. The finding of an IX, Xl, and XII, and a mean Fletcher factor abnormal partial thromb...

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Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.

The complement system is an essential element in our innate defense against infections with Neisseria meningitidis. We describe 2 cases of meningococcal septic shock, 1 of them fatal, in 2 children of a Turkish family. In the surviving patient, alternative pathway activation was absent and factor D plasma concentrations were undetectable. Concentrations of mannose-binding lectin (MBL), C1q, C4 ...

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ژورنال

عنوان ژورنال: Annals of the Rheumatic Diseases

سال: 1992

ISSN: 0003-4967

DOI: 10.1136/ard.51.11.1254