Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation

Ming Liu; Bingtai Lu; Ping Zeng; Bing Huang; Yanhui Xu; Hanquan Liang; Diyuan Yang; Sida Yang; Hai-Bin Luo; Andrew M Lew; Seth L Masters; Lanlan Geng; Huasong Zeng; Yuxia Zhang

doi:10.1007/s10875-020-00771-0

Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation

J Clin Immunol. 2020 May;40(4):647-652. doi: 10.1007/s10875-020-00771-0. Epub 2020 Mar 27.

Authors

Ming Liu^{1

2}, Bingtai Lu^{1

2}, Ping Zeng¹, Bing Huang^{1

2}, Yanhui Xu^{1

2}, Hanquan Liang¹, Diyuan Yang¹, Sida Yang¹, Hai-Bin Luo³, Andrew M Lew⁴, Seth L Masters⁴, Lanlan Geng⁵, Huasong Zeng⁶, Yuxia Zhang^{7

8

9}

Affiliations

¹ Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Centre, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510006, China.
² Department of Respiratory Medicine, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Centre, State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, Guangdong, China.
³ School of Pharmaceutical Sciences, Sun Yat-Sen University, Guangzhou, 510006, China.
⁴ Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology, University of Melbourne, VIC, Parkville, 3052, Australia.
⁵ Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Centre, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510006, China. genglan_2001@hotmail.com.
⁶ Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Centre, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510006, China. huasongxuqing@163.com.
⁷ Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Centre, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510006, China. yuxia.zhang@gwcmc.org.
⁸ Department of Respiratory Medicine, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Centre, State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, Guangdong, China. yuxia.zhang@gwcmc.org.
⁹ The third affiliated hospital of Zhengzhou University, Zhengzhou, 450052, China. yuxia.zhang@gwcmc.org.

PMID: 32221732
DOI: 10.1007/s10875-020-00771-0

No abstract available

Publication types

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

MeSH terms

B-Lymphocytes / immunology*
Cell Differentiation
Cells, Cultured
Drug Resistance
Fatal Outcome
Female
Heterozygote
Humans
Immunologic Deficiency Syndromes / diagnosis*
Immunologic Deficiency Syndromes / genetics
Infant
Lymphocyte Activation
Mutation / genetics*
Nervous System Diseases / diagnosis*
Nervous System Diseases / genetics
Pedigree
Receptors, Interleukin-12 / genetics*
Sepsis / diagnosis*
Sepsis / genetics
Th17 Cells / immunology*

Substances

IL12RB1 protein, human
Receptors, Interleukin-12