Literature DB >> 26545580

Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.

Alessia Scarselli1, Silvia Di Cesare2, Gigliola Di Matteo2, Arianna De Matteis2, Paola Ariganello2, Maria Luisa Romiti2, Simona Cascioli3, Rita De Vito4, Alice Bertaina5, Franco Locatelli5, H Bobby Gaspar6, Alessandro Aiuti7, Paolo Rossi2, Kimberly Gilmour8, Caterina Cancrini9.   

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Year:  2015        PMID： 26545580     DOI： 10.1016/j.jaci.2015.09.017

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  5 in total

1.  Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.

Authors:  Craig D Platt; Michel J Massaad; Brittney Cangemi; Birgitta Schmidt; Hasan Aldhekri; Raif S Geha
Journal:  J Allergy Clin Immunol       Date:  2016-12-10       Impact factor: 10.793

Review 2.  Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.

Authors:  Linqing Zhong; Wei Wang; Mingsheng Ma; Lijuan Gou; Xiaoyan Tang; Hongmei Song
Journal:  Medicine (Baltimore)       Date:  2017-10       Impact factor: 1.889

3.  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

4.  Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.

Authors:  Emilia Cirillo; Caterina Cancrini; Chiara Azzari; Silvana Martino; Baldassarre Martire; Andrea Pession; Alberto Tommasini; Samuele Naviglio; Andrea Finocchi; Rita Consolini; Paolo Pierani; Irene D'Alba; Maria Caterina Putti; Antonio Marzollo; Giuliana Giardino; Rosaria Prencipe; Federica Esposito; Fiorentino Grasso; Alessia Scarselli; Gigliola Di Matteo; Enrico Attardi; Silvia Ricci; Davide Montin; Fernando Specchia; Federica Barzaghi; Maria Pia Cicalese; Giuseppe Quaremba; Vassilios Lougaris; Silvia Giliani; Franco Locatelli; Paolo Rossi; Alessandro Aiuti; Raffaele Badolato; Alessandro Plebani; Claudio Pignata
Journal:  Front Immunol       Date:  2019-08-13       Impact factor: 7.561

5.  JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.

Authors:  Gigliola Di Matteo; Maria Chiriaco; Alessia Scarselli; Cristina Cifaldi; Susanna Livadiotti; Silvia Di Cesare; Valentina Ferradini; Alessandro Aiuti; Paolo Rossi; Andrea Finocchi; Caterina Cancrini
Journal:  Mol Genet Genomic Med       Date:  2018-07-21       Impact factor: 2.183
  5 in total

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