Literature DB >> 23940110

A novel IL2RG mutation presenting with atypical T(-)B(+)NK+ phenotype: rapid elucidation of NK cell origin.

Orlando A Estévez1, Consuelo Ortega, Silvia Fernández, Rocio Aguado, José Rumbao, Juan Perez-Navero, Manuel Santamaría.   

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Year:  2013        PMID： 23940110     DOI： 10.1002/pbc.24717

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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  5 in total

1.  The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.

Authors:  A Arcas-García; M Garcia-Prat; M Magallón-Lorenz; A Martín-Nalda; O Drechsel; S Ossowski; L Alonso; J G Rivière; P Soler-Palacín; R Colobran; J Sayós; M Martínez-Gallo; C Franco-Jarava
Journal:  Clin Exp Immunol       Date:  2020-01-19       Impact factor: 4.330

2.  Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

Authors:  Anderson Dik Wai Luk; Pamela P Lee; Huawei Mao; Koon-Wing Chan; Xiang Yuan Chen; Tong-Xin Chen; Jian Xin He; Nadia Kechout; Deepti Suri; Yin Bo Tao; Yong Bin Xu; Li Ping Jiang; Woei Kang Liew; Orathai Jirapongsananuruk; Tassalapa Daengsuwan; Anju Gupta; Surjit Singh; Amit Rawat; Amir Hamzah Abdul Latiff; Anselm Chi Wai Lee; Lynette P Shek; Thi Van Anh Nguyen; Tek Jee Chin; Yin Hsiu Chien; Zarina Abdul Latiff; Thi Minh Huong Le; Nguyen Ngoc Quynh Le; Bee Wah Lee; Qiang Li; Dinesh Raj; Mohamed-Ridha Barbouche; Meow-Keong Thong; Maria Carmen D Ang; Xiao Chuan Wang; Chen Guang Xu; Hai Guo Yu; Hsin-Hui Yu; Tsz Leung Lee; Felix Yat Sun Yau; Wilfred Hing-Sang Wong; Wenwei Tu; Wangling Yang; Patrick Chun Yin Chong; Marco Hok Kung Ho; Yu Lung Lau
Journal:  Front Immunol       Date:  2017-07-12       Impact factor: 7.561

3.  IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature.

Authors:  Che Kang Lim; Hassan Abolhassani; Sofia K Appelberg; Mikael Sundin; Lennart Hammarström
Journal:  Allergy Asthma Clin Immunol       Date:  2019-01-05       Impact factor: 3.406

4.  Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.

Authors:  Elina A Tuovinen; Juha Grönholm; Tiina Öhman; Sakari Pöysti; Raine Toivonen; Anna Kreutzman; Kaarina Heiskanen; Luca Trotta; Sanna Toiviainen-Salo; John M Routes; James Verbsky; Satu Mustjoki; Janna Saarela; Juha Kere; Markku Varjosalo; Arno Hänninen; Mikko R J Seppänen
Journal:  J Clin Immunol       Date:  2020-02-19       Impact factor: 8.317

5.  Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.

Authors:  Anita Chandra; Fang Zhang; Kimberly C Gilmour; David Webster; Vincent Plagnol; Dinakantha S Kumararatne; Siobhan O Burns; Sergey Nejentsev; Adrian J Thrasher
Journal:  J Allergy Clin Immunol       Date:  2015-10-31       Impact factor: 10.793
  5 in total

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