Literature DB >> 27543071

Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.

Johannes Trück1, Dominic F Kelly2, John M Taylor3, Anne Kathrin Kienzler4, Tracy Lester3, Anneke Seller3, Andrew J Pollard2, Smita Y Patel4.   

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Year:  2016        PMID： 27543071     DOI： 10.1016/j.jaci.2016.04.059

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


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  4 in total

1.  Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.

Authors:  Emmanuel Martin; Norbert Minet; Anne-Claire Boschat; Sylvia Sanquer; Steicy Sobrino; Christelle Lenoir; Jean Pierre de Villartay; Maria Leite-de-Moraes; Capucine Picard; Claire Soudais; Tim Bourne; Sophie Hambleton; Stephen M Hughes; Robert F Wynn; Tracy A Briggs; Smita Patel; Monica G Lawrence; Alain Fischer; Peter D Arkwright; Sylvain Latour
Journal:  JCI Insight       Date:  2020-03-12

Review 2.  Inherited Immunodeficiencies With High Predisposition to Epstein-Barr Virus-Driven Lymphoproliferative Diseases.

Authors:  Sylvain Latour; Sarah Winter
Journal:  Front Immunol       Date:  2018-06-04       Impact factor: 7.561

3.  Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Authors:  John Taylor; Jude Craft; Edward Blair; Sarah Wordsworth; David Beeson; Saleel Chandratre; Judith Cossins; Tracy Lester; Andrea H Németh; Elizabeth Ormondroyd; Smita Y Patel; Alistair T Pagnamenta; Jenny C Taylor; Kate L Thomson; Hugh Watkins; Andrew O M Wilkie; Julian C Knight
Journal:  Genome Med       Date:  2019-07-25       Impact factor: 11.117

Review 4.  Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.

Authors:  Otavio Cabral-Marques; Lena F Schimke; Edgar Borges de Oliveira; Nadia El Khawanky; Rodrigo Nalio Ramos; Basel K Al-Ramadi; Gesmar Rodrigues Silva Segundo; Hans D Ochs; Antonio Condino-Neto
Journal:  Front Immunol       Date:  2019-11-26       Impact factor: 7.561
  4 in total

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