Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

被引：36
作者：
Erman, Baran [1 ,2 ]
Bilic, Ivan [1 ]
Hirschmugl, Tatjana [1 ]
Salzer, Elisabeth [1 ]
Cagdas, Deniz [2 ]
Esenboga, Saliha [2 ]
Akcoren, Zuhal [3 ]
Sanal, Ozden [2 ]
Tezcan, Ilhan [2 ]
Boztug, Kaan [1 ,4 ]
机构：
[1] Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1010 Vienna, Austria
[2] Hacettepe Univ Med, Dept Pediat Immunol, Ankara, Turkey
[3] Hacettepe Univ, Fac Med, Dept Pediat Pathol, TR-06100 Ankara, Turkey
[4] Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria
来源：
HAEMATOLOGICA | 2015年 / 100卷 / 06期
基金：
奥地利科学基金会;
关键词：
combined immunodeficiencies; loss-of-function mutation; IL21R; CD4; lymphopenia; sclerosing cholangitis; SECRETING PLASMA-CELLS; IL-21; RECEPTOR; B-CELLS; INTERLEUKIN-21; DIFFERENTIATION; RESPONSES; STAT3; DEFICIENCY; ACTIVATION; NAIVE;
D O I：
10.3324/haematol.2014.120980
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：E216 / E219
页数：4
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