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Alpha-1 antitrypsin deficiency–associated panniculitis

Journal of the American Academy of Dermatology, 2022
Background: Panniculitis represents a rare and potentially lethal manifestation of alpha-1 antitrypsin deficiency (AATD). Evidence regarding management is limited to case reports and small case series.
James Ralph, Noel McElvaney, Tomáš Carroll   +2 more
exaly   +4 more sources

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Alpha-1 Antitrypsin Deficiency

2023
Alpha-1 antitrypsin (AAT) deficiency is a common monogenic disorder in which there is a strong founder effect of a single missense mutation in SERPINA1, the gene encoding this major circulating serum anti-protease that is normally expressed primarily in hepatocytes.
Alisha M, Gruntman, Wen, Xue, Terence R, Flotte   +2 more
openaire   +2 more sources

Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency

The American Journal of Medicine, 1988
Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low serum levels of A1AT and a high risk for the development of emphysema. A1AT is the principal inhibitor of neutrophil elastase, such that a deficiency of A1AT results in insufficient anti-elastase protection in the lower respiratory tract, thus allowing neutrophil elastase ...
R C, Hubbard, R G, Crystal
openaire   +2 more sources

Alpha-1-antitrypsin in malakoplakia

Virchows Archiv A Pathological Anatomy and Histology, 1982
Macrophages in malakoplakia contain large amounts of immunoreactive alpha-1-antitrypsin (AAT). The amount of AAT remains unchanged during the morphogenetic stages of the pathological process (early, granulomatous, fibrosing phases), and does not correlate with the number or the presence of Michaelis-Gutmann (M.G.) bodies.
F, Callea, B, Van Damme, V J, Desmet
openaire   +2 more sources

Deficiency of Alpha-1 Antitrypsin

Annals of Internal Medicine, 1973
Excerpt It is almost a decade since genetic deficiency of alpha-1 antitrypsin was discovered in Malmo, Sweden, by Laurell and Eriksson (1) and shown to be associated with a tendency to early-onset ...
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Alpha-1-Antitrypsin

1976
Proteinasen sind proteinspaltende Enzyme, die normalerweise nicht als solche im Plasma vorkommen, sondern als Vorstufen, die ihre Aktivitat erst durch Interaktion mit einem oder mehreren Aktivatoren erhalten. Dabei handelt es sich entweder um „selbstandige“ Proenzyme oder um solche, die zu Kaskadensystemen gehoren (ein aus einer Vorstufe entstehendes ...
openaire   +2 more sources

Alpha-1 Antitrypsin Deficiency

Journal of Insurance Medicine, 2015
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
openaire   +2 more sources

[Alpha 1-antitrypsin deficiency].

Revue des maladies respiratoires, 2016
Pulmonary emphysema and liver disease are the clinical expressions of alpha 1-antitrypsin deficiency, an autosomal recessive genetic disease.Alpha 1-antitrypsin deficiency is usually associated with the homozygous Z variant of the SERPINA1 gene.
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ALPHA‐1‐ANTITRYPSIN DEFICIENCY IN ADULTS

Acta Pathologica Japonica, 1986
A clinicopathological examination was carried out on eight adult patients with alpha‐1‐antitrypsin (ATT) deficiency. Phenotyping comfirmed five patients with PiMZ, two patients with PiZ‐, and one patient with PiZZ. Cirrhosis was found in six of the patients, four of whom had a history of excessive ethanol comsumption.
M, Kage, M, Kage, C T, Liew, Y, Xu, R L, Peters   +4 more
openaire   +2 more sources

Alpha 1 antitrypsin augmentation for alpha 1 antitrypsin deficiency associated lung disease

Cochrane Database of Systematic Reviews
This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To assess the effects of alpha 1 antitrypsin augmentation therapy on respiratory disease in people with alpha 1 antitrypsin deficiency.
Patrick, Glaister, Nichola, Hindle Robinson, Amy, Ward, Chloe, Bentham, Iain, Crossingham   +4 more
openaire   +2 more sources