Anna Roppelt
15 Papers
Anna Roppelt is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 1, co-authored 1 publications.
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Papers
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
Federica Barzaghi,Laura C. Amaya Hernandez,Benedicte Neven,Silvia Ricci,Zeynep Yesim Kucuk,Jack J. Bleesing,Zohreh Nademi,Mary Slatter,Erlinda R. Ulloa,Anna Shcherbina,Anna Roppelt,Austen Worth,Juliana Silva,Alessandro Aiuti,Luis Murguia-Favela,Carsten Speckmann,Magda Carneiro-Sampaio,Juliana Folloni Fernandes,Safa Baris,Ahmet Ozen,Elif Karakoc-Aydiner,Ayca Kiykim,Ansgar Schulz,Sandra Steinmann,Lucia Dora Notarangelo,Eleonora Gambineri,Paolo Lionetti,William T. Shearer,Lisa R. Forbes,Caridad Martinez,Despina Moshous,Stéphane Blanche,Alain Fisher,Frank M. Ruemmele,Come Tissandier,Marie Ouachée-Chardin,Frédéric Rieux-Laucat,Marina Cavazzana,Waseem Qasim,Barbarella Lucarelli,Michael H. Albert,Ichiro Kobayashi,Laura C. Alonso,Cristina Díaz de Heredia,Hirokazu Kanegane,Anita Lawitschka,Jong Jin Seo,Marta González-Vicent,Miguel Angel Diaz,Rakesh K. Goyal,Martin Sauer,Akif Yesilipek,Minsoo Kim,Yesim Yilmaz-Demirdag,Monica Bhatia,Julie Khlevner,Erick J. Richmond Padilla,Silvana Martino,Davide Montin,Olaf Neth,Agueda Molinos-Quintana,Justo Valverde-Fernandez,Arnon Broides,Vered Pinsk,Antje Ballauf,Filomeen Haerynck,Victoria Bordon,Catharina Dhooge,Maria Laura Garcia-Lloret,Robbert G. M. Bredius,Krzysztof Kałwak,Elie Haddad,Markus G. Seidel,Gregor Dückers,Sung-Yun Pai,Sung-Yun Pai,Christopher C. Dvorak,Stephan Ehl,Franco Locatelli,Frederick D. Goldman,Andrew R. Gennery,M.J. Cowan,Maria Grazia Roncarolo,Rosa Bacchetta +83 more
TL;DR: Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long‐term disease‐free survival, and when performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.
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Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
Florian Gothe,J. Spegarova,Catherine F Hatton,Helen Griffin,Thomas Sargent,Sally A. Cowley,William James,Anna Roppelt,Anna Shcherbina,Fabian Hauck,Hugh Reyburn,C. Duncan,Sophie Hambleton +12 more
TL;DR: In this paper , the authors explored the signaling kinetics and residual transcriptional responses of IFN-stimulated primary cells from individuals with complete loss of one of the signal transducers and activators of transcription 2 (STAT2) or IFN regulatory factor 9 (IRF9).
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Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
Romain Lévy,Florian Gothe,Mana Momenilandi,Thomas Magg,Marie Materna,Philip Peters,Johannes Raedler,Quentin Philippot,Anita Rack-Hoch,David Langlais,Mathieu Bourgey,Anna Lanz,Masato Ogishi,Jérémie Rosain,Emmanuel Martin,Sylvain Latour,Natasha Vladikine,Marco Distefano,Taushif Khan,Franck Rapaport,Marian Simon Schulz,Ursula Holzer,Anders Fasth,Georgios Sogkas,Carsten Speckmann,Arianna Troilo,Venetia Bigley,Anna Roppelt,Yael Dinur-Schejter,Ori Toker,Karen Helene Bronken Martinsen,Roya Sherkat,Ido Somekh,Raz Somech,Dror S. Shouval,Jörn Sven Kühl,Winnie Ip,Elizabeth M. McDermott,Lucy Cliffe,Ahmet Ozen,Safa Baris,Hemalatha G. Rangarajan,Emmanuelle Jouanguy,Anne Puel,Jacinta Bustamante,Marie-Alexandra Alyanakian,Mathieu Fusaro,Yi Wang,Xiao-Fei Kong,Aurélie Cobat,David Boutboul,Martin Castelle,Claire Aguilar,Olivier Hermine,Morgane Cheminant,Felipe Suarez,Alisan Yildiran,Aziz Bousfiha,Hamoud Al-Mousa,Fahad Alsohime,Deniz Cagdas,Roshini S. Abraham,Alan P. Knutsen,Børre Fevang,Sagar Bhattad,Ayca Kiykim,Baran Erman,Tugba Arikoglu,Ekrem Unal,Ashish R Kumar,Christoph B. Geier,Ulrich Baumann,Bénédicte Neven,Meino Rohlfs,Christoph Walz,Laurent Abel,Bernard Malissen,Nico Marr,Christoph Klein,Jean-Laurent Casanova,Fabian Hauck,Vivien Béziat +81 more
TL;DR: Inherited CARMIL2 deficiency underlies infections, EBV+ smooth muscle tumors, and mucocutaneous inflammation as discussed by the authors , and it impairs CD28 signaling only partially in T cells.
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Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency
Joseph Topal,Neelam Panchal,Amairelys Barroeta,Anna Roppelt,Anne C. Mudde,H. Bobby Gaspar,Adrian J. Thrasher,Benjamin C Houghton,Claire Booth +8 more
TL;DR: In this paper , a lentiviral vector encoding human X-linked inhibitor of apoptosis protein (XIAP) deficiency was transduced with the same vector and functional recovery was demonstrated using in vitro L18-MDP/NOD2 assays.
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Human inherited complete STAT2 deficiency underlies inflammatory viral diseases
Giorgia Bucciol,Leen Moens,Masato Ogishi,Darawan Rinchai,Daniela Matuozzo,Mana Momenilandi,Catherine M. Cale,Elsa Treffeisen,Bandar Al-Saud,Alain Lachaux,Rémi Duclaux-Loras,Marie Meignien,Aziz Bousfiha,Ibtihal Benhsaien,Anna Shcherbina,Anna Roppelt,Florian Gothe,Nadhira Houhou-Fidouh,Scott Hackett,Lisa M. Bartnikas,Michelle C. Maciag,Mohammed F. Alosaimi,Janet Chou,Reem Mohammed,Bishara J. Freij,Emmanuelle Jouanguy,Shen-ying Zhang,Stéphanie Boisson-Dupuis,Vivien Béziat,Qian Zhang,C. J. Duncan,Sophie Hambleton,Jean-Laurent Casanova,Isabelle Meyts +33 more
TL;DR: In this paper , the authors report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency, which is a transcription factor activated by type I and III IFNs.
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