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

页码：E216 / E219

页数：4

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