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 351 free, full-text research articles on human participants. First 3 results:

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
 

Author(s): Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh

Journal:

 

The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence ...

Last Updated: 15 Jun 2017

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Genotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis.
 

Author(s): Noura Al-Jameil, Amina A Hassan, Ahlam Buhairan, Rana Hassanato, Sree R Isac, Maram Al-Otaiby, Basmah Al-Maarik, Iman Al-Ajeyan

Journal: Medicine (Baltimore). 2017 Feb;96(6):e6071.

 

The acute phase protein alpha-1 antitrypsin (AAT) is mainly produced in liver cells. AAT deficiency affects the lungs and liver. We conducted a case-control study to define a valuable method for the proper diagnosis of alpha-1 antitrypsin deficiency (AATD), as well as the association ...

Last Updated: 8 Feb 2017

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Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.
 

Author(s): Irene Belmonte, Miriam Barrecheguren, Rosa M López-Martínez, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles, Francisco Rodríguez-Frías

Journal:

 

Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, ...

Last Updated: 23 Nov 2016

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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 60 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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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: 3 Jan 2017

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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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