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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis.

Of 26 patients with autoimmune chronic active hepatitis (CAH) starting in childhood 18 (69%) had low C4 and 5 (19%) had low C3 serum levels. Impaired hepatic synthesis and immune-consumption were unlikely since transferrin levels were normal in all patients, albumin levels were persistently low in only 3, and only 3 had raised levels of activation fragment C3d. C4d was normal in all patients studied. In the families of 12 probands with low C4, 7 parents had low C4 and 2 had levels which were at the lower limit of normal. 5 of 10 siblings from 5 families had low C4. These results suggest that low C4 levels in CAH are genetically determined. C4 phenotyping in 20 patients and in 26 parents showed that 90% and 81%, respectively, had null allotypes at either the C4A or C4B locus compared with 59% in controls, indicating that defective expression of structural genes may contribute to the observed C4 deficiency.[1]

References

  1. Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis. Vergani, D., Wells, L., Larcher, V.F., Nasaruddin, B.A., Davies, E.T., Mieli-Vergani, G., Mowat, A.P. Lancet (1985) [Pubmed]
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