Complete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS)

被引：4
|
作者：
Tessarin, Giulio [1 ,2 ]
Mazza, Cinzia [3 ]
Baronio, Manuela [1 ,2 ]
Gazzurelli, Luisa [1 ,2 ]
Rossi, Stefano [1 ,2 ]
Moratto, Daniele [4 ]
Badolato, Raffaele [1 ,2 ]
Rensing-Ehl, Anne [5 ]
Ehl, Stephan [5 ]
Warnatz, Klaus [5 ]
Rosanelli, Carlo [6 ]
Morello, Enrico [7 ]
Plebani, Alessandro [1 ,2 ]
Lougaris, Vassilios [1 ,2 ]
机构：
[1] Univ Brescia, ASST Spedali Civili Brescia, Pediat Clin, Brescia, Italy
[2] Univ Brescia, Inst Mol Med A Nocivelli, Dept Clin & Expt Sci, ASST Spedali Civili Brescia, Brescia, Italy
[3] ASST Spedali Civili, Med Genet Lab, Brescia, Italy
[4] ASST Spedali Civili Brescia, Clin Chem Lab, Flow Cytometry Unit, Brescia, Italy
[5] Univ Freiberg, Med Ctr, Ctr Chron Immunodeficiency, Freiburg, Germany
[6] Alto Adige Hosp, Hematol & Bone Marrow Transplantat Unit, Bolzano, Italy
[7] Univ Brescia, ASST Spedali Civili Brescia, Dept Clin & Expt Sci, Bone Marrow Transplant Unit, Brescia, Italy
来源：
CLINICAL IMMUNOLOGY | 2021年 / 228卷
关键词：
ALPS; FAS; Autoimmunity; Lymphocyte; FAS/CD95; expression; Inborn errors of immunity; DISEASE;
D O I：
10.1016/j.clim.2021.108757
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
引用
收藏
页数：3
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  • [1] Fas (CD95) mutations in a kindred with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.
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