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Does alpha-1-antitrypsin PInull phenotype exist?

โœ Scribed by Jean-Pierre Martin; Richard Sesboue; Roland Charlionet; Claude Ropartz

Publisher
Springer
Year
1975
Tongue
English
Weight
377 KB
Volume
30
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

A second case of Pi null alpha-1-antitrypsin (AA) deficiency is described. In fact, the serum's subject contains 5 mug of AA per millilitre. With radiolabelled specific antibodies, it is possible to describe the Pi phenotype associated to this deficiency. The pattern which is obtained is like the ordinary Pi M, but 500 times lower than normal values. In contrast to a common deficient variant (ZZ or MZ), the subject tissues do not contain periodic acid-schiff positive inclusion bodies. The "normal" pattern obtained after antigen-antibody crossed electrophoresis, would be in favour of a deficient anomaly hereditarily transmitted.

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