Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity

Dan-Hui Yang; Ting Guo; Zhuang-Zhuang Yuan; Cheng Lei; Shui-Zi Ding; Yi-Feng Yang; Zhi-Ping Tan; Hong Luo

doi:10.1038/s41423-020-0423-x

Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity

Cell Mol Immunol. 2020 Jul;17(7):782-784. doi: 10.1038/s41423-020-0423-x. Epub 2020 Apr 1.

Authors

Dan-Hui Yang^#^{1

2

3}, Ting Guo^#^{1

2

3}, Zhuang-Zhuang Yuan⁴, Cheng Lei^{1

2

3}, Shui-Zi Ding^{1

2

3}, Yi-Feng Yang⁵, Zhi-Ping Tan⁶, Hong Luo^{7

8

9}

Affiliations

¹ Department of Respiratory Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, China.
² Research Unit of Respiratory Disease, Central South University, Changsha, Hunan, 410011, China.
³ Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan, 410011, China.
⁴ School of Life Sciences, Central South University, Changsha, Hunan, 410013, China.
⁵ Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, 410011, China.
⁶ Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, 410011, China. zhipingtan@csu.edu.cn.
⁷ Department of Respiratory Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, China. luohonghuxi@csu.edu.cn.
⁸ Research Unit of Respiratory Disease, Central South University, Changsha, Hunan, 410011, China. luohonghuxi@csu.edu.cn.
⁹ Hunan Diagnosis and Treatment Center of Respiratory Disease, Changsha, Hunan, 410011, China. luohonghuxi@csu.edu.cn.

^# Contributed equally.

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Autoimmunity / genetics*
CARD Signaling Adaptor Proteins / genetics*
Disease Progression*
Environment
Female
Humans
Immunologic Deficiency Syndromes / diagnostic imaging
Immunologic Deficiency Syndromes / genetics*
Immunologic Deficiency Syndromes / pathology*
Immunophenotyping
Male
Monocytes / metabolism
Mutation / genetics*
Pedigree

Substances

CARD Signaling Adaptor Proteins
CARD10 protein, human