Case Report: Pansclerotic Morphea-Clinical Features, Differential Diagnoses and Modern Treatment Concepts

Autor: Sarah Ventéjou, Agnes Schwieger-Briel, Rebecca Nicolai, Stephanie Christen-Zaech, Caroline Schnider, Michael Hofer, Sofia Bogiatzi, Daniel Hohl, Fabrizio De Benedetti, Marie-Anne Morren

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

Pansclerotic morphea (PSM) is a rare skin disease characterized by progressive stiffening of the skin with or without the typical superficial skin changes usually seen in morphea (localized scleroderma). Standard therapy, consisting of a combination

Externí odkaz: https://doaj.org/article/2252460042a94d19be8d3a5d47b5abf2

Common Variable Immunodeficiency in a Carrier of the ADA2 R169Q Variant: Coincidence or Causality?

Autor: Laura Moi, Caroline Schnider, Orbicia Riccio, Michael S. Hershfield, Fabio Candotti

Publikováno v: Journal of Clinical Immunology. 42:959-961

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d17f08e649519bb2dd6187e9a44c1aeb
https://doi.org/10.1007/s10875-022-01271-z

Correction to: Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients

Autor: Hasan Hashem, Giorgia Bucciol, Seza Ozen, Sule Unal, Ikbal Ok Bozkaya, Nurten Akarsu, Mervi Taskinen, Minna Koskenvuo, Janna Saarela, Dimana Dimitrova, Dennis D. Hickstein, Amy P. Hsu, Steven M. Holland, Robert Krance, Ghadir Sasa, Ashish R. Kumar, Ingo Müller, Monica Abreu de Sousa, Selket Delafontaine, Leen Moens, Florian Babor, Federica Barzaghi, Maria Pia Cicalese, Robbert Bredius, Joris van Montfrans, Valentina Baretta, Simone Cesaro, Polina Stepensky, Neven Benedicte, Despina Moshous, Guillaume Le Guenno, David Boutboul, Jignesh Dalal, Joel P. Brooks, Elif Dokmeci, Jasmeen Dara, Carrie L. Lucas, Sophie Hambleton, Keith Wilson, Stephen Jolles, Yener Koc, Tayfun Güngör, Caroline Schnider, Fabio Candotti, Sandra Steinmann, Ansgar Schulz, Chip Chambers, Michael Hershfield, Amanda Ombrello, Jennifer A. Kanakry, Isabelle Meyts

Correction to: Journal of Clinical Immunology (2021) 41:1633–1647

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f62bcbe6405cf24fc11c69abaf87d6a9
https://orca.cardiff.ac.uk/id/eprint/149487/1/Hashem2022_Article_CorrectionToHematopoieticCellT.pdf

Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients

Autor: Elif Dokmeci, Keith Wilson, Selket Delafontaine, Federica Barzaghi, Simone Cesaro, Jennifer A. Kanakry, Despina Moshous, Sophie Hambleton, Robbert G. M. Bredius, Dimana Dimitrova, Mervi Taskinen, Florian Babor, İkbal Ok Bozkaya, Hasan Hashem, Robert A. Krance, Michael S. Hershfield, Nurten A. Akarsu, Seza Ozen, Polina Stepensky, David Boutboul, Ghadir S. Sasa, Joel P Brooks, Sandra Steinmann, Jignesh Dalal, Isabelle Meyts, Amy P. Hsu, Caroline Schnider, Dennis D. Hickstein, Yener Koc, Guillaume Le Guenno, Minna Koskenvuo, Chip Chambers, Tayfun Güngör, Maria Pia Cicalese, Fabio Candotti, Valentina Baretta, Steven M. Holland, Ingo Müller, Jasmeen Dara, Neven Benedicte, Giorgia Bucciol, Amanda K. Ombrello, Janna Saarela, Stephen Jolles, Ashish R Kumar, Sule Unal, Carrie L. Lucas, Leen Moens, Joris M. van Montfrans, Monica Abreu de Sousa, Ansgar Schulz

Publikováno v: Journal of Clinical Immunology, 41(7), 1633-1647. SPRINGER/PLENUM PUBLISHERS
Journal of clinical immunology, vol. 41, no. 7, pp. 1633-1647
Journal of Clinical Immunology

Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ace541f0425652c858e94ad95ce9362
https://link.springer.com/content/pdf/10.1007/s10875-021-01098-0.pdf

Case Report: Pansclerotic Morphea-Clinical Features, Differential Diagnoses and Modern Treatment Concepts

Autor: Fabrizio De Benedetti, Rebecca Nicolai, Sofia Bogiatzi, Caroline Schnider, Agnes Schwieger-Briel, Michael Hofer, Stéphanie Christen-Zaech, Marie-Anne Morren, Daniel Hohl, Sarah Ventéjou

Publikováno v: Frontiers in immunology, vol. 12, pp. 656407
Frontiers in Immunology, Vol 12 (2021)
Frontiers in Immunology

Pansclerotic morphea (PSM) is a rare skin disease characterized by progressive stiffening of the skin with or without the typical superficial skin changes usually seen in morphea (localized scleroderma). Standard therapy, consisting of a combination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74dc39d97aa18c6bc0598ad82d8f8614
https://serval.unil.ch/resource/serval:BIB_F62DE0476303.P001/REF.pdf