Familial α1‐Antichymotrypsin Deficiency
(1986) In Acta Medica Scandinavica 220(5). p.447-453- Abstract
ABSTRACT We studied patients and their relatives with partial deficiency, approximately 50% of normal plasma levels, of α1‐antichymotrypsin (ACT), an acute phase reactant with anti‐cathepsin G activity. Six of eight ACT deficient individuals, over 25 years of age, had liver and three of eight lung manifestations, varying from severe disease to subtle laboratory abnormalities. The ACT of deficient individuals (who are heterozygotes for a rare gene, q=0.003) had normal crossed immunoelectrophoretic properties. The abnormal gene is inherited in an autosomal, dominant way. The results suggest that deficiency of this antiprotease, which also has immune response modulating properties, may predispose to liver and lung disease. 1986... (More)
ABSTRACT We studied patients and their relatives with partial deficiency, approximately 50% of normal plasma levels, of α1‐antichymotrypsin (ACT), an acute phase reactant with anti‐cathepsin G activity. Six of eight ACT deficient individuals, over 25 years of age, had liver and three of eight lung manifestations, varying from severe disease to subtle laboratory abnormalities. The ACT of deficient individuals (who are heterozygotes for a rare gene, q=0.003) had normal crossed immunoelectrophoretic properties. The abnormal gene is inherited in an autosomal, dominant way. The results suggest that deficiency of this antiprotease, which also has immune response modulating properties, may predispose to liver and lung disease. 1986 Association for the Publication of the Journal of Internal Medicine
(Less)
- author
- ERIKSSON, STEN LU ; LINDMARK, BERTIL and LILJA, HANS LU
- organization
- publishing date
- 1986
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- deficiency, heredity, liver disease, lung disease, α ‐antichymotrypsin
- in
- Acta Medica Scandinavica
- volume
- 220
- issue
- 5
- pages
- 447 - 453
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:3492865
- scopus:0022838995
- ISSN
- 0001-6101
- DOI
- 10.1111/j.0954-6820.1986.tb02794.x
- language
- English
- LU publication?
- yes
- id
- e0c0c593-03f1-4bce-85d0-c3c40fc73dae
- date added to LUP
- 2022-12-06 17:02:27
- date last changed
- 2024-01-03 19:32:27
@article{e0c0c593-03f1-4bce-85d0-c3c40fc73dae, abstract = {{<p>ABSTRACT We studied patients and their relatives with partial deficiency, approximately 50% of normal plasma levels, of α<sub>1</sub>‐antichymotrypsin (ACT), an acute phase reactant with anti‐cathepsin G activity. Six of eight ACT deficient individuals, over 25 years of age, had liver and three of eight lung manifestations, varying from severe disease to subtle laboratory abnormalities. The ACT of deficient individuals (who are heterozygotes for a rare gene, q=0.003) had normal crossed immunoelectrophoretic properties. The abnormal gene is inherited in an autosomal, dominant way. The results suggest that deficiency of this antiprotease, which also has immune response modulating properties, may predispose to liver and lung disease. 1986 Association for the Publication of the Journal of Internal Medicine</p>}}, author = {{ERIKSSON, STEN and LINDMARK, BERTIL and LILJA, HANS}}, issn = {{0001-6101}}, keywords = {{deficiency; heredity; liver disease; lung disease; α ‐antichymotrypsin}}, language = {{eng}}, number = {{5}}, pages = {{447--453}}, publisher = {{Wiley-Blackwell}}, series = {{Acta Medica Scandinavica}}, title = {{Familial α<sub>1</sub>‐Antichymotrypsin Deficiency}}, url = {{http://dx.doi.org/10.1111/j.0954-6820.1986.tb02794.x}}, doi = {{10.1111/j.0954-6820.1986.tb02794.x}}, volume = {{220}}, year = {{1986}}, }