ArticleSarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG2020
A rare mutation on alpha-1 antitrypsin deficit and lung fibrosis: case report.
Article in Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.
- Identification of Hub Genes in Idiopathic Pulmonary Fibrosis and Their Association with Lung Cancer by Bioinformatics Analysis.Advances in respiratory medicine · 2023Pooled it
- Upadacitinib in a Refractory Case of Alpha-1 Antitrypsin Deficiency-Related Panniculitis.Cureus · 2025Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha1-antitrypsin deficiency (AATD) is an autosomal codominant disease, and different genetic variants are known, some of which very rare. Usual pulmonary manifestations include emphysema, bronchiectasis and asthma. Pulmonary fibrosis is uncommon. We describe a case of a 64 year old man with an inaugural diagnosis of cirrhosis and lung fibrosis, without emphysema or bronchiectasis, associated with AATD. Further investigation identified a rare variant in heterozigosity (MM
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