Jinjian Fu

First report of autoinflammatory disease due to somatic ELF4 loss-of-function mutation

Jinjian Fu, Yu Liang, Zhongxun Yu, Yi Zeng et autres

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IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses

Yudie Fei, Lin Liu, Shuangyue Ma, Ying Jin et autres

Interleukin-1 receptor-associated kinase 2 (IRAK2) is essential for the Myddosome complex formation downstream of Toll-like receptors. We identify twelve patients with a homozygous loss-of-function copy number variant in IRAK2, designated IRAK2-∆ex2. Most patients present with recurrent infections, autoantibody production, and gastrointestinal ulceration. …

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Author Correction: Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus

Qintao Wang, Honghao Zhu, Xiangwei Sun, Changming Zhang et autres

In the version of this article initially published, due to figure preparation mistakes, the image shown in Fig. 2g for IL-23 was a duplicate of the GM-CSF image below; in Extended Data Fig. 2c, the C1 plot for IFN-α was a duplicate …

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Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus

Qintao Wang, Honghao Zhu, Xiangwei Sun, Changming Zhang et autres

. Here we report on five patients with SLE carrying recessive mutations in phospholipase D family member 4 (PLD4). Deleterious variants in PLD4 resulted in impaired single-stranded nucleic acid exonuclease activity in in vitro and ex vivo assays. PLD4 loss-of-function mutations led …

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Genome-based model for differentiating between infection and carriage Staphylococcus aureus

Wenyin Du, Yuehe Li, Huiliu Zhou, Dejia Ouyang et autres

ABSTRACT Staphylococcus aureus ( S. aureus ) is a clinically significant opportunistic pathogen, which can colonize multiple body sites in healthy individuals and cause various life-threatening diseases in both children and adults worldwide. The genetic backgrounds of S. aureus that cause infection …

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Disease-Associated Streptococcus pneumoniae Genetic Variation

Shimin Yang, Jianyu Chen, Jinjian Fu, Jiayin Huang et autres

Streptococcus pneumoniae is an opportunistic pathogen that causes substantial illness and death among children worldwide. The genetic backgrounds of pneumococci that cause infection versus asymptomatic carriage vary substantially. To determine the evolutionary mechanisms of opportunistic pathogenicity, we conducted a genomic surveillance study …

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[Screening of pathogenic molecular markers of Staphylococcus aureus in children based on whole genome sequencing technology].

Jianyu Chen, Xulin Wang, Wenyu Li, Min-Qi Chen et autres

OBJECTIVES: . METHODS: A cross-sectional study design was used to conduct nasopharyngeal swab sampling from healthy children in the community and clinical samples from infected children in the hospital. Whole genome sequencing was used to detect antibiotic resistance genes and virulence genes. …

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Focused ultrasound: a novel therapy for improving vaginal microecology in patients with high-risk HPV infection

Hua Tao, Dingyuan Zeng, Wenzhi Chen, Fang Li et autres

Objectives To investigate changes in vaginal microecology in women with high-risk human papillomavirus (HR-HPV) infection after focused ultrasound (FU) treatment.Materials and methods We collected vaginal secretions at the time of admission and 3 months after FU treatment from 169 women who received …

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Optimal whole-life-cycle planning for battery energy storage system with normalized quantification of multi-services profitability

Yunfei Du, Xin Yin, Xinyu Jiang, Xianggen Yin et autres

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[Clustering and influencing factors of Streptococcus pneumoniae carriage among kindergarten children].

Xulin Wang, Min-Qi Cehn, Wenyu Li, Jinjian Fu et autres

OBJECTIVE: carriage among kindergarten children, and to provide a scientific basis for the prevention of pneumococcal diseases. METHODS: The multi-stage stratified cluster sampling method was used to collect nasal swabs via the nasal vestibule at both sides from 1 702 kindergarten children …

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Non-linear relationships between children age and pneumococcal vaccine coverage: Important implications for vaccine prevention strategies

Yanling Liu, Wenhui Li, Qian Dong, Minqi Chen et autres

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Molecular epidemiology of Streptococcus pneumoniae isolated from pediatric community-acquired pneumonia in pre-conjugate vaccine era in Western China

Zhuoxin Liang, Jinjian Fu, Ling Li, Rongsong Yi et autres

BACKGROUND: Streptococcus pneumoniae (S. pneumoniae) is one of the most common pathogens which can cause morbidity and mortality in pediatric infections worldwide. This study aimed to describe the phenotypic and molecular characteristics of community-acquired pneumonia (CAP)-causing S. pneumoniae recovered from children in …

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