Literature DB >> 30756212

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis.

Mingyan Fang1,2,3, Hassan Abolhassani3, Qiang Pan-Hammarström4, Erik Sandholm5, Xiao Liu1,2, Lennart Hammarström6,7,8.   

Abstract

Entities:  

Year:  2019        PMID： 30756212     DOI： 10.1007/s10875-019-00598-4

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  11 in total

1.  High incidence of Epstein-Barr virus (EBV)-positive Hodgkin lymphoma and Hodgkin lymphoma-like B-cell lymphoproliferations with EBV latency profile 2 in children with interleukin-2-inducible T-cell kinase deficiency.

Authors:  Kirsten Bienemann; Arndt Borkhardt; Wolfram Klapper; Ilske Oschlies
Journal:  Histopathology       Date:  2015-04-30       Impact factor: 5.087

2.  Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.

Authors:  R M Linka; S L Risse; K Bienemann; M Werner; Y Linka; F Krux; C Synaeve; R Deenen; S Ginzel; R Dvorsky; M Gombert; A Halenius; R Hartig; M Helminen; A Fischer; P Stepensky; K Vettenranta; K Köhrer; M R Ahmadian; H-J Laws; B Fleckenstein; H Jumaa; S Latour; B Schraven; A Borkhardt
Journal:  Leukemia       Date:  2012-01-06       Impact factor: 11.528

3.  IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.

Authors:  Polina Stepensky; Michael Weintraub; Asaf Yanir; Shoshana Revel-Vilk; Frank Krux; Kirsten Huck; Rene M Linka; Avraham Shaag; Orly Elpeleg; Arndt Borkhardt; Igor B Resnick
Journal:  Haematologica       Date:  2010-11-25       Impact factor: 9.941

Review 4.  Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

Authors:  Mingyan Fang; Hassan Abolhassani; Che Kang Lim; Jianguo Zhang; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2016-03-18       Impact factor: 8.317

5.  Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.

Authors:  Hassan Abolhassani; Asghar Aghamohammadi; Mingyan Fang; Nima Rezaei; Chongyi Jiang; Xiao Liu; Qiang Pan-Hammarström; Lennart Hammarström
Journal:  Genet Med       Date:  2018-06-19       Impact factor: 8.822

Review 6.  Primary immune deficiencies - principles of care.

Authors:  Helen Chapel; Johan Prevot; Hubert Bobby Gaspar; Teresa Español; Francisco A Bonilla; Leire Solis; Josina Drabwell
Journal:  Front Immunol       Date:  2014-12-15       Impact factor: 7.561

Review 7.  Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects.

Authors:  Sujal Ghosh; Kirsten Bienemann; Kaan Boztug; Arndt Borkhardt
Journal:  J Clin Immunol       Date:  2014-10-24       Impact factor: 8.317

8.  International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

Authors:  Capucine Picard; H Bobby Gaspar; Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Talal Chatila; Yanick J Crow; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Hans D Ochs; Eric Oksenhendler; Jennifer Puck; Mimi L K Tang; Stuart G Tangye; Troy R Torgerson; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2017-12-11       Impact factor: 8.317

9.  The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.

Authors:  Aziz Bousfiha; Leïla Jeddane; Capucine Picard; Fatima Ailal; H Bobby Gaspar; Waleed Al-Herz; Talal Chatila; Yanick J Crow; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Hans D Ochs; Eric Oksenhendler; Jennifer Puck; Mimi L K Tang; Stuart G Tangye; Troy R Torgerson; Jean-Laurent Casanova; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2017-12-11       Impact factor: 8.317

Review 10.  Interleukin-2-Inducible T-Cell Kinase Deficiency-New Patients, New Insight?

Authors:  Sujal Ghosh; Ingo Drexler; Sanil Bhatia; Heiko Adler; Andrew R Gennery; Arndt Borkhardt
Journal:  Front Immunol       Date:  2018-05-08       Impact factor: 7.561
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