Literature DB >> 31382036

A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease.

B M Smits1, P H C Lelieveld2, F A Ververs3, M Turkenburg4, C de Koning3, M van Dijk5, H L Leavis6, J J Boelens7, C A Lindemans8, A C Bloem3, L van de Corput3, J van Montfrans9, S Nierkens10, M E van Gijn11, D P Geerke5, H R Waterham4, L Koenderman12, M Boes13.   

Abstract

Entities:  

Year:  2019        PMID： 31382036     DOI： 10.1016/j.clim.2019.108248

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


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  4 in total

1.  Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.

Authors:  Liang Zhang; Zhi Chen; Wenyan Li; Qiao Liu; Yanping Wang; Xuemei Chen; Zhirui Tian; Qiuyun Yang; Yunfei An; Zhiyong Zhang; Huawei Mao; Xuemei Tang; Ge Lv; Xiaodong Zhao
Journal:  J Clin Immunol       Date:  2022-05-21       Impact factor: 8.542

2.  A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.

Authors:  Chantal Lagresle-Peyrou; Aurélien Olichon; Hanem Sadek; Philippe Roche; Claudine Tardy; Cindy Da Silva; Alexandrine Garrigue; Alain Fischer; Despina Moshous; Yves Collette; Capucine Picard; Jean Laurent Casanova; Isabelle André; Marina Cavazzana
Journal:  Haematologica       Date:  2021-02-01       Impact factor: 9.941

Review 3.  Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.

Authors:  Emil E Vorsteveld; Alexander Hoischen; Caspar I van der Made
Journal:  Clin Rev Allergy Immunol       Date:  2021-03-05       Impact factor: 8.667

4.  Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development.

Authors:  Bas M Smits; Taila Hartley; Ester Dünnebach; Marije Bartels; Kim M Boycott; Kirstin D Kernohan; David A Dyment; Jacques C Giltay; Elie Haddad; Olga Jarinova; Joris van Montfrans; Annet van Royen-Kerkhof; Lars T van der Veken; Moniek de Witte; Stefan Nierkens; Anne Pham-Huy; Helen L Leavis
Journal:  Hemasphere       Date:  2022-09-21
  4 in total

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