Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1-Reference-Cited by-同舟云学术

Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1

Published:2020-01-14 Issue:2 Volume:40 Page:350-358
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Zhong Linqing,Wang Jun,Wang Wei,Wang Lin,Quan Meiying,Tang Xiaoyan,Gou Lijuan,Wei Min,Xiao Juan,Zhang Tiannan,Sui Ruifang,Zhou Qing,Song Hongmei^ORCID

Funder

the Public Welfare Scientific Research Project of China

CAMS Central Public Welfare Scientific Research Institute Basal Research Expenses to HW

CAMS Initiative for Innovative Medicine

the Capital Health Research and Development of Special

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-020-00741-6.pdf

Reference15 articles.

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2. Zhou Q, Wang H, Schwartz DM, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016;48(1):67–73.

3. Damgaard RB, Walker JA, Marco-Casanova P, et al. The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity. Cell. 2016;166(5):1215–30.e20.

4. Zhou Q, Yu X, Demirkaya E, et al. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A. 2016;113(36):10127–32.

5. Aksentijevich I, Zhou Q. NF-kappaB pathway in autoinflammatory diseases: dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases. Front Immunol. 2017;8:399.

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