Results 81 to 90 of about 124,197,172 (205)

Patients with Alpha-1 Antitrypsin Deficiency: Disease Management Considerations

, 2008
Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder that leads to decreased circulating levels of AAT, which significantly increases the risk of serious lung and liver disease.
Brian L. Tiep, Rick Carter, Brian L Tiep
core   +1 more source

CHAPLE‐Like Enteropathy and Renal Microangiopathy in an Adult Patient With CD46 Deficiency

Journal of Clinical Laboratory Analysis, Volume 40, Issue 21, November 2026.
We report an adult patient with a homozygous CD46 variant presenting with lifelong protein‐losing enteropathy, intestinal lymphangiectasia, and CVID‐like hypogammaglobulinemia mimicking CHAPLE syndrome. Concurrent renal biopsy revealed PLA2R‐negative membranous nephropathy with chronic thrombotic microangiopathy, establishing multi‐organ complement ...
Bircan Erden, Pelin Korkmaz, Halil Yazici, Ahmet Burak Dirim, Fatih Beşışık, Nevzat Kahveci, Zeynep Kilinc, Derya Unal, Osman Ozan Yegit, Tuğba Kalaycı, Özge Hürdoğan, Yasemin Özlük, Melek Büyük, Asli Gelincik, Semra Demir   +14 more
wiley   +1 more source

Diagnosis of alpha-1 antitrypsin deficiency: a population-based study

, 2016
Miriam Barrecheguren,1,2 Mónica Monteagudo,3 Pere Simonet,3–5 Carl Llor,6 Esther Rodriguez,1,7 Jaume Ferrer,1,2,7 Cristina Esquinas,1 Marc Miravitlles1,2,7 1Department of Pneumology, Vall d´Hebron University Hospital, 2Medicine ...
Llor C, Ferrer J, Barrecheguren M, Esquinas C, Monteagudo M, Miravitlles M, Rodriguez E, Simonet P   +7 more
core  

Alpha-1 antitrypsin deficiency-associated panniculitis: a case report

Zdravniški Vestnik
Alpha-1 antitrypsin deficiency is a hereditary disorder with predominantly pulmonary but also extrapulmonary manifestations. In the skin, it is associated with panniculitis, a necrotizing neutrophilic inflammation in the subcutis. Clinically, it presents
Špela But, Maja Jerše, Pij Bogomir Marko   +2 more
doaj   +1 more source

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency

Pulmonology, 2018
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several
A.P. Lopes, M.A. Mineiro, F. Costa, J. Gomes, C. Santos, C. Antunes, D. Maia, R. Melo, M. Canotilho, E. Magalhães, I. Vicente, C. Valente, B.G. Gonçalves, B. Conde, C. Guimarães, C. Sousa, J. Amado, M.E. Brandão, M. Sucena, M.J. Oliveira, S. Seixas, V. Teixeira, L. Telo   +22 more
doaj   +1 more source

Serpin A1 Cargo Within Tumour‐Derived Extracellular Vesicles Supports Pro‐Tumoural Bias of Neutrophils in Cancer

Journal of Extracellular Vesicles, Volume 15, Issue 11, November 2026.
ABSTRACT Tumour‐derived extracellular vesicles (EVs) or exosomes are critical mediators of the cancer‐immune system crosstalk, yet the mechanisms by which they reprogram neutrophil function in vivo remain insufficiently characterised. Here, we identify the serine protease inhibitor Serpin A1 as a predominant cargo component of small EVs (sEVs) released
Maksim Domnich, Ekaterina Pylaeva, Elena Siakaeva, Nastassia Kabankova, Agnieszka Bedzinska, Damian Sojka, Aneta Zebrowska, Marta Gawin, Maren Soldierer, Yaping Yu, Malwina Rist, Daniel Fochtman, Bernd Giebel, Iris Helfrich, Ilona Thiel, Basant Kumar Thakur, Cornelius H. L. Kürten, Helmut Hanenberg, Sonja Ludwig, Piotr Widlak, Stephan Lang, Monika Pietrowska, Jadwiga Jablonska   +22 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, Volume 7, Issue 4, Page 564-571, November 2026.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Deficiency of α-1-antitrypsin influences systemic iron homeostasis

, 2013
Andrew J Ghio,1 Joleen M Soukup,1 Judy H Richards,1 Bernard M Fischer,2 Judith A Voynow,2 Donald E Schmechel31US Environmental Protection Agency, Chapel Hill, NC, USA; 2Division of Pediatric Pulmonary Medicine, Department of Pediatrics,3Joseph and ...
Soukup JM, Voynow JA, Fischer BM, Richards JH, Schmechel DE, Ghio AJ   +5 more
core  

Liver Disease in Alpha-1-Antitrypsin Deficiency

, 2019
Alpha-1-antitrypsin deficiency is a hereditary disorder characterized by a deficiency of the primarily liver-produced enzyme alpha-1-antitrypsin. In children, it remains the most common genetic cause of liver disease.
Alice Turner, Awan, Zoya, Turner, Alice, Zoya Awan   +3 more
core   +1 more source