Antitrypsin Deficiency

Common Name(s)

Antitrypsin Deficiency

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Antitrypsin Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Antitrypsin Deficiency" returned 347 free, full-text research articles on human participants. First 3 results:

Free light chains: potential biomarker and predictor of mortality in alpha-1-antitrypsin deficiency and usual COPD.
 

Author(s): Judith A Hampson, Robert A Stockley, Alice M Turner

Journal:

 

Circulating free light chains (FLCs) can alter neutrophil migration, apoptosis and activation and may be a biomarker of autoimmune disease and adaptive immune system activation. These pathogenic roles could be relevant to lung disease in alpha 1 antitrypsin deficiency (A1ATD) and ...

Last Updated: 2 Apr 2016

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Philanthropy and Advocacy-Led Development of Gene Therapies and Drugs for Alpha-1 Antitrypsin Deficiency.
 

Author(s): Jean-Marc Quach, Robert Campbell, John Walsh

Journal: Hum. Gene Ther.. 2015 Dec;26(12):783-5.

 

Last Updated: 22 Dec 2015

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Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
 

Author(s): Benedikt Schaefer, David Haschka, Armin Finkenstedt, Britt-Sabina Petersen, Igor Theurl, Benjamin Henninger, Andreas R Janecke, Chia-Yu Wang, Herbert Y Lin, Lothar Veits, Wolfgang Vogel, G√ľnter Weiss, Andre Franke, Heinz Zoller

Journal: Hum. Mol. Genet.. 2015 Nov;24(21):6254-63.

 

Liver disease due to alpha-1-antitrypsin deficiency (A1ATD) is associated with hepatic iron overload in a subgroup of patients. The underlying cause for this association is unknown. The aim of the present study was to define the genetics of this correlation and the effect of alpha-1-antitrypsin ...

Last Updated: 10 Oct 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Antitrypsin Deficiency" returned 61 free, full-text review articles on human participants. First 3 results:

Challenges and Prospects for Alpha-1 Antitrypsin Deficiency Gene Therapy.
 

Author(s): Joanna Wozniak, Tomasz Wandtke, Piotr Kopinski, Joanna Chorostowska-Wynimko

Journal: Hum. Gene Ther.. 2015 Nov;26(11):709-18.

 

Alpha-1 antitrypsin (AAT) is a protease inhibitor belonging to the serpin family. A number of identified mutations in the SERPINA1 gene encoding this protein result in alpha-1 antitrypsin deficiency (AATD). A decrease in AAT serum concentration or reduced biological activity causes ...

Last Updated: 11 Nov 2015

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Progress with Recombinant Adeno-Associated Virus Vectors for Gene Therapy of Alpha-1 Antitrypsin Deficiency.
 

Author(s): Alisha M Gruntman, Terence R Flotte

Journal: Hum Gene Ther Methods. 2015 Jun;26(3):77-81.

 

The pathway to a clinical gene therapy product often involves many changes of course and strategy before obtaining successful results. Here we outline the methodologies, both clinical and preclinical, that went into developing a gene therapy approach to the treatment of alpha-1 antitrypsin ...

Last Updated: 23 Jun 2015

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Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or Immunologist's Perspective.
 

Author(s): Timothy J Craig

Journal: J Allergy Clin Immunol Pract. ;3(4):506-11.

 

Alpha-1 antitrypsin deficiency (AATD) is a hereditary, monogenic disorder with no unique clinical features. AATD can be difficult to diagnose as patients commonly present with respiratory symptoms often mistaken for other respiratory syndromes such as asthma or smoking-related chronic ...

Last Updated: 13 Jul 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Microbioma in Sputa From COPD With Alpha-1 Antitrypsin Deficiency
 

Status: Not yet recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 9 Sep 2015

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Alpha-1 Antitrypsin Deficiency Adult Liver Study
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 19 Apr 2016

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Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 20 Sep 2016

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