Results 81 to 90 of about 101,532 (231)

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, EarlyView.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese, Anna Calamita, Diletta D'Angelo, Alessia Marseglia, Esther Mesa Lombardero, Sara Pedersoli, Micol Tedeschi, Mara De Amici, Sara Manti, Valeria Brazzelli, Amelia Licari, Gian Luigi Marseglia   +11 more
wiley   +1 more source

Biochemical, Biophysical, and Cellular Investigations of the Interactions of Transferrin Receptor with Transferrin and the Hereditary Hemochromatosis Protein, HFE [PDF]

, 2004
Hereditary hemochromatosis (HH) is a prevalent genetic disorder that results in the daily excess absorption of dietary iron. If untreated this disease leads to systemic organ failure and death. HH is caused by mutations to the gene coding for a protein
Giannetti, Anthony Michael
core   +1 more source

Screening for Plasminogen Mutations in Hereditary Angioedema Patients

, 2021
Hereditary angioedema (HAE) is a rare disease belonging to the group of bradykinin-mediated angioedemas, characterized by recurring edematous episodes involving the subcutaneous and/or submucosal tissues.
Edina Szabó, Lilian Varga, Henriette Farkas, Anna Dóczy, Dorottya Csuka   +4 more
core   +1 more source

Eosinophilia and Hypereosinophilia: A Practical Approach to Navigating a Broad Differential Diagnosis

European Journal of Haematology, EarlyView.
ABSTRACT Eosinophilia, defined as an absolute eosinophil count (AEC) of ≥ 0.5 × 109/L, is a frequently encountered finding with a vast spectrum of potential underlying etiologies. Hypereosinophilia (HE) is defined as AEC > 1.5 × 109/L and may become life‐threatening when eosinophil‐induced organ damage occurs, defining the hypereosinophilic syndrome ...
Stijn Wigerinck, Peter Vandenberghe
wiley   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Linear Clique-Width for Hereditary Classes of Cographs [PDF]

, 2016
The class of cographs is known to have unbounded linear clique-width. We prove that a hereditary class of cographs has bounded linear clique-width if and only if it does not contain all quasi-threshold graphs or their complements. The proof borrows ideas
Vincent Vatter, Vatter, Vincent, Robert Brignall, Nicholas Korpelainen, Korpelainen, Nicholas, Brignall, Robert   +5 more
core   +1 more source

The hereditary angioedema syndromes [PDF]

Journal of Clinical Investigation, 2018
Hereditary angioedema (HAE) is a rare genetic disorder primarily caused by mutations in the SERPING1 gene encoding the C1 inhibitor (C1INH) that leads to plasma deficiency, resulting in recurrent attacks of severe swelling. In the current issue of the JCI, Haslund et al.
openaire   +2 more sources

Management of chronic urticaria: Current status and future prospect

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Chronic urticaria is driven by mast cell activation through autoimmune, inflammatory, and neuroimmune pathways. A structured approach combining diagnosis, patient‐reported outcomes, stepwise therapy, treatment optimization, monitoring and emerging targeted agents may improve disease control and enable more personalized management.
Andaç Salman, Mona Al‐Ahmad, Maryam Al‐Nesf, Chia‐Yu Chu, Luis Felipe Ensina, Ana M. Gimenez‐Arnau, Margarida Gonçalo, Clive Grattan, Michihiro Hide, Pavel Kolkhir, Martin Metz, Iman Nasr, Romi Saini, Simon Francis Thomsen, Torsten Zuberbier, Emek Kocaturk   +15 more
wiley   +1 more source

Genetics of Hereditary Angioedema Revisited

, 2016
Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered.
Germenis A.E., Speletas M.
core   +1 more source

The Pathophysiology of Hereditary Angioedema [PDF]

World Allergy Organization Journal, 2010
Hereditary angioedema (HAE) causes recurrent episodes of angioedema that may be very severe and are frequently associated with significant morbidity and even mortality. Understanding the pathophysiology of this disease is crucial for proper diagnosis and management of these patients.
openaire   +5 more sources