ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation

Autor: Federica Barzaghi, Federica Minniti, Margherita Mauro, Massimiliano De Bortoli, Rita Balter, Elisa Bonetti, Ada Zaccaron, Virginia Vitale, Maryam Omrani, Matteo Zoccolillo, Immacolata Brigida, Maria Pia Cicalese, Massimo Degano, Michael S. Hershfield, Alessandro Aiuti, Anastasiia V. Bondarenko, Matteo Chinello, Simone Cesaro

Publikováno v: Frontiers in Immunology, Vol 9 (2019)

Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome region candidate 1 (CECR1) gene, currently named ADA2. The disease has a wide clinical spectrum encompassing early-onset vasculopa

Externí odkaz: https://doaj.org/article/47f65f0e0e954a7a959df3bccfcbee78

A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia

Autor: Göksel Leblebisatan, Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Faruk Incecik, İlgen Şaşmaz, Mustafa Yilmaz

Publikováno v: Pediatric Hematology and Oncology. 36:376-381

PubMedID: 31522599 Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterized by livedo reticularis, skin ulcers, subcutaneous rash, aphthous ulcers, and leukocytoclastic vasculitis, neurological signs such as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e56e98fcffc23b12066324d094b8df
https://doi.org/10.1080/08880018.2019.1621973

Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation

Autor: van Well, G.T.J., Kant, Benjamin, Nisterlrooij, A, Ekmekci, S, Henriet, Stefanie, Hoppenreijs, E.P.A.H., van Deuren, M., van Montfrans, JM, Nierkens, Stefan, Gul, A, van Gijn, Marielle

Publikováno v: Publons
Clinical and Experimental Rheumatology, 37(121/6), 142-146. Clinical and Experimental Rheumatology
Clinical and Experimental Rheumatology, 37(6), 142-146. CLINICAL & EXPER RHEUMATOLOGY
Clinical and Experimental Rheumatology, 37(suppl 121), 142. Clinical and Experimental Rheumatology S.A.S.

Objective. To describe phenotypic and functional characteristics of patients with the homozygous c.973-2A>G splice site mutation in the adenosine deaminase 2 (ADA2) gene (rs139750129), resulting in deficiency of ADA2 (DADA2). Methods. We present case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d4e96a63dc87e4eadda4f8f9cca5ef48
https://dspace.library.uu.nl/handle/1874/391635

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Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations

Autor: Shaima Riyad, Reem Albalawi, Mohammed Altowijiry, Haifa M. AlNafea, Naif Albolowi, Fadwa Abufara, Ehab Hanafy

Publikováno v: Journal of Investigative Medicine High Impact Case Reports
Journal of Investigative Medicine High Impact Case Reports, Vol 9 (2021)

Recent progress in laboratory techniques, particularly, identification of novel disease-causing genes, has led to the detection of different gene mutations that might be implicated in the pathogenesis of different hematological disorders like pure re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16af118d54aab374fee5c3488a2ca82b
https://doi.org/10.1177/23247096211056770