alpha 1-Antitrypsin Deficiency

"alpha 1-Antitrypsin Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.

Descriptor ID	D019896
MeSH Number(s)	C06.552.074 C08.381.112 C16.320.060 C23.550.325.500.500
Concept/Terms	alpha 1-Antitrypsin Deficiency alpha 1-Antitrypsin Deficiency Deficiencies, alpha 1-Antitrypsin Deficiency, alpha 1-Antitrypsin alpha 1 Antitrypsin Deficiency alpha 1-Antitrypsin Deficiencies

Below are MeSH descriptors whose meaning is more general than "alpha 1-Antitrypsin Deficiency".

Diseases [C]
Digestive System Diseases [C06]
Liver Diseases [C06.552]
alpha 1-Antitrypsin Deficiency [C06.552.074]
Respiratory Tract Diseases [C08]
Lung Diseases [C08.381]
alpha 1-Antitrypsin Deficiency [C08.381.112]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
alpha 1-Antitrypsin Deficiency [C16.320.060]
Pathological Conditions, Signs and Symptoms [C23]
Pathologic Processes [C23.550]
Emphysema [C23.550.325]
Subcutaneous Emphysema [C23.550.325.500]
alpha 1-Antitrypsin Deficiency [C23.550.325.500.500]

Below are MeSH descriptors whose meaning is related to "alpha 1-Antitrypsin Deficiency".

Below are MeSH descriptors whose meaning is more specific than "alpha 1-Antitrypsin Deficiency".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "alpha 1-Antitrypsin Deficiency" by people in this website by year, and whether "alpha 1-Antitrypsin Deficiency" was a major or minor topic of these publications.

Bar chart showing 38 publications over 18 distinct years, with a maximum of 6 publications in 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2002	1	0	1
2004	2	0	2
2005	1	1	2
2006	1	0	1
2007	2	2	4
2009	1	0	1
2010	2	0	2
2011	2	0	2
2012	3	0	3
2013	2	0	2
2014	1	0	1
2015	3	0	3
2016	1	0	1
2017	6	0	6
2018	2	0	2
2022	1	0	1
2023	1	0	1
2024	3	0	3

Below are the most recent publications written about "alpha 1-Antitrypsin Deficiency" by people in Profiles.

Pires-Ferreira D, Reil D, Tang Q, Blackwood M, Gallagher T, Keeler AM, Chichester JA, Vyhnal KK, Lindborg JA, Benson J, Fu D, Flotte TR, Gruntman AM. Limb Perfusion Delivery of a rAAV1 Alpha-1 Antitrypsin Vector in Non-Human Primates Is Safe but Insufficient for Therapy. Genes (Basel). 2024 Sep 10; 15(9).

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Gruntman AM, Xue W, Flotte TR. Alpha-1 Antitrypsin Deficiency. Methods Mol Biol. 2024; 2750:1-7.

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Gruntman AM, Xue W, Flotte TR. Approaches to Therapeutic Gene Editing in Alpha-1 Antitrypsin Deficiency. Methods Mol Biol. 2024; 2750:11-17.

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Pires Ferreira D, Gruntman AM, Flotte TR. Gene therapy for alpha-1 antitrypsin deficiency: an update. Expert Opin Biol Ther. 2023 03; 23(3):283-291.

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Ke H, Guay KP, Flotte TR, Gierasch LM, Gershenson A, Hebert DN. Secretion of functional a1-antitrypsin is cell type dependent: Implications for intramuscular delivery for gene therapy. Proc Natl Acad Sci U S A. 2022 08 02; 119(31):e2206103119.

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Flotte TR. Alpha-1 Antitrypsin Deficiency as a Candidate for Gene Editing. Hum Gene Ther. 2018 08; 29(8):843-844.

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Song CQ, Wang D, Jiang T, O'Connor K, Tang Q, Cai L, Li X, Weng Z, Yin H, Gao G, Mueller C, Flotte TR, Xue W. In Vivo Genome Editing Partially Restores Alpha1-Antitrypsin in a Murine Model of AAT Deficiency. Hum Gene Ther. 2018 08; 29(8):853-860.

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Borel F, Tang Q, Gernoux G, Greer C, Wang Z, Barzel A, Kay MA, Shultz LD, Greiner DL, Flotte TR, Brehm MA, Mueller C. Survival Advantage of Both Human Hepatocyte Xenografts and Genome-Edited Hepatocytes for Treatment of a-1 Antitrypsin Deficiency. Mol Ther. 2017 11 01; 25(11):2477-2489.

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Mueller C, Gernoux G, Gruntman AM, Borel F, Reeves EP, Calcedo R, Rouhani FN, Yachnis A, Humphries M, Campbell-Thompson M, Messina L, Chulay JD, Trapnell B, Wilson JM, McElvaney NG, Flotte TR. 5 Year Expression and Neutrophil Defect Repair after Gene Therapy in Alpha-1 Antitrypsin Deficiency. Mol Ther. 2017 06 07; 25(6):1387-1394.

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Calcedo R, Somanathan S, Qin Q, Betts MR, Rech AJ, Vonderheide RH, Mueller C, Flotte TR, Wilson JM. Class I-restricted T-cell responses to a polymorphic peptide in a gene therapy clinical trial for a-1-antitrypsin deficiency. Proc Natl Acad Sci U S A. 2017 02 14; 114(7):1655-1659.

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