LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency
Author:
Funder
French National Research Agency
Fonds de Recherche en Santé Respiratoire
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
http://link.springer.com/content/pdf/10.1007/s10875-019-00667-8.pdf
Reference14 articles.
1. Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, et al. Mendelian susceptibility to mycobacterial disease: 2014-2018 update. Immunol Cell Biol. 2019;97(4):360–7.
2. Martinez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramirez-Alejo N, Mele F, et al. Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. Sci Immunol. 2018;3(30). https://doi.org/10.1126/sciimmunol.aau6759
3. Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, et al. Tuberculosis and impaired IL-23-dependent IFN-gamma immunity in humans homozygous for a common TYK2 missense variant. Sci Immunol. 2018;3(30). https://doi.org/10.1126/sciimmunol.aau8714
4. Humblet-Baron S, Franckaert D, Dooley J, Ailal F, Bousfiha A, Deswarte C, et al. IFN-gamma and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2018;143(6):2215–26.
5. Shabani M, Aleyasin S, Kashef S, Zoghi S, Deswarte C, Casanova JL, et al. A novel recessive mutation of interferon-gamma receptor 1 in a patient with mycobacterium tuberculosis in bone marrow aspirate. J Clin Immunol. 2019;39(2):127–30.
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