Alpha1-antitrypsin deficiency: An updated review

JF Mornex, J Traclet, O Guillaud, M Dechomet… - La Presse Médicale, 2023 - Elsevier
Abstract Alpha1-antitrypsin deficiency (AATD) is a rare autosomal recessive disease
associated with the homozygous Z variant of the SERPINA1 gene. Clinical expression of …

Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases

LM Merlo Pich, A Ziogas, MG Netea - The FEBS Journal, 2024 - Wiley Online Library
Dysregulation and hyperactivation of innate immune responses can lead to the onset of
systemic autoinflammatory diseases. Monogenic autoinflammatory diseases are caused by …

Discovery of a shared therapeutic target in granulomatosis with polyangiitis and gastric tumor microenvironment.

MC Chou, WK Lee, PH Chen, LF Pan… - International …, 2023 - search.ebscohost.com
The results showed that I SERPINA1 i expression levels were significantly higher in patients
with gastric tumors than in non-tumor patients and were statistically significant (IP i < 0.05) …

Granulomatosis with polyangiitis with salivary glands involvement: Presenting a case and describing its clinical, pathophysiological, and therapeutic aspects

A Ahmadzadeh, F Farsad, N Babadi… - Clinical Case …, 2023 - Wiley Online Library
Key Clinical Message Granulomatosis with polyangiitis (GPA), a rare form of small vessel
vasculitis, may be manifested by multisystem involvement misleading its definitive diagnosis …