Novel monogenic diseases causing human autoimmunity

被引：17

作者：

Melkil, Isabelle ^{[1
,2
,3
]}

Crow, Yanick J. ^{[3
,4
,5
]}

机构：

[1] Hop Robert Debre, AP HP, Pediat Gen, Paris, France

[2] Hop Necker Enfants Malad, AP HP, Hematoimmunol Pediat, Paris, France

[3] Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malad, Lab Neurogenet & Neuroinflammat, INSERM,UMR 1163,Inst Imagine, Paris, France

[4] Paris Descartes Univ, Paris, France

[5] Univ Manchester, Manchester Acad Hlth Sci Ctr, Fac Med & Human Sci, Manchester Ctr Genom Med,Inst Human Dev, Manchester M13 9PL, Lancs, England

来源：

CURRENT OPINION IN IMMUNOLOGY | 2015年 / 37卷

基金：

欧洲研究理事会;

关键词：

SYSTEMIC-LUPUS-ERYTHEMATOSUS; GAIN-OF-FUNCTION; KINASE-C DELTA; IMMUNE DYSREGULATION; GERMLINE MUTATIONS; DEFICIENCY; CTLA4;

D O I：

10.1016/j.coi.2015.07.008

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Fuelled by the on-going sequencing revolution, the last two years have seen a number of exciting discoveries relating to monogenic disorders predisposing to autoimmunity that provide new insights into the function of the human immune system. Here we discuss a selection of these diseases due to mutations in PRKCD, CTLA4, STAT3, IFIH1, TMEM173 and COPA.

引用

页码：1 / 5

页数：5

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