Literature DB >> 29510232

Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency.

Erica Valencic1, Antonio Giacomo Grasso2, Ester Conversano3, Marianna Lucafò2, Elisa Piscianz2, Massimo Gregori1, Francesca Conti4, Caterina Cancrini5, Alberto Tommasini1.   

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Year:  2018        PMID: 29510232     DOI: 10.1016/j.jaip.2018.02.029

Source DB:  PubMed          Journal:  J Allergy Clin Immunol Pract


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  5 in total

1.  Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient.

Authors:  Francesca Conti; Arianna Catelli; Cristina Cifaldi; Lucia Leonardi; Rita Mulè; Marco Fusconi; Vittorio Stefoni; Maria Chiriaco; Beatrice Rivalta; Silvia Di Cesare; Gioacchino Schifino; Fabiana Sbrega; Gigliola Di Matteo; Simona Ferrari; Caterina Cancrini; Andrea Pession
Journal:  Front Pediatr       Date:  2021-07-08       Impact factor: 3.418

2.  Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Authors:  Cristina Cifaldi; Immacolata Brigida; Federica Barzaghi; Matteo Zoccolillo; Valentina Ferradini; Davide Petricone; Maria Pia Cicalese; Dejan Lazarevic; Davide Cittaro; Maryam Omrani; Enrico Attardi; Francesca Conti; Alessia Scarselli; Maria Chiriaco; Silvia Di Cesare; Francesco Licciardi; Montin Davide; Francesca Ferrua; Clementina Canessa; Claudio Pignata; Silvia Giliani; Simona Ferrari; Georgia Fousteri; Graziano Barera; Pietro Merli; Paolo Palma; Simone Cesaro; Marco Gattorno; Antonio Trizzino; Viviana Moschese; Loredana Chini; Anna Villa; Chiara Azzari; Andrea Finocchi; Franco Locatelli; Paolo Rossi; Federica Sangiuolo; Alessandro Aiuti; Caterina Cancrini; Gigliola Di Matteo
Journal:  Front Immunol       Date:  2019-04-11       Impact factor: 7.561

3.  Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Authors:  Peer Arts; Annet Simons; Mofareh S AlZahrani; Elanur Yilmaz; Eman AlIdrissi; Koen J van Aerde; Njood Alenezi; Hamza A AlGhamdi; Hadeel A AlJubab; Abdulrahman A Al-Hussaini; Fahad AlManjomi; Alaa B Alsaad; Badr Alsaleem; Abdulrahman A Andijani; Ali Asery; Walid Ballourah; Chantal P Bleeker-Rovers; Marcel van Deuren; Michiel van der Flier; Erica H Gerkes; Christian Gilissen; Murad K Habazi; Jayne Y Hehir-Kwa; Stefanie S Henriet; Esther P Hoppenreijs; Sarah Hortillosa; Chantal H Kerkhofs; Riikka Keski-Filppula; Stefan H Lelieveld; Khurram Lone; Marius A MacKenzie; Arjen R Mensenkamp; Jukka Moilanen; Marcel Nelen; Jaap Ten Oever; Judith Potjewijd; Pieter van Paassen; Janneke H M Schuurs-Hoeijmakers; Anna Simon; Tomasz Stokowy; Maartje van de Vorst; Maaike Vreeburg; Anja Wagner; Gijs T J van Well; Dimitra Zafeiropoulou; Evelien Zonneveld-Huijssoon; Joris A Veltman; Wendy A G van Zelst-Stams; Eissa A Faqeih; Frank L van de Veerdonk; Mihai G Netea; Alexander Hoischen
Journal:  Genome Med       Date:  2019-06-17       Impact factor: 11.117

Review 4.  Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes.

Authors:  Valentina Boz; Chiara Zanchi; Laura Levantino; Guglielmo Riccio; Alberto Tommasini
Journal:  World J Clin Pediatr       Date:  2022-03-09

5.  Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.

Authors:  Francesco Rispoli; Erica Valencic; Martina Girardelli; Alessia Pin; Alessandra Tesser; Elisa Piscianz; Valentina Boz; Flavio Faletra; Giovanni Maria Severini; Andrea Taddio; Alberto Tommasini
Journal:  Diagnostics (Basel)       Date:  2021-03-16
  5 in total

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