title: Transcriptome analysis of bronchoalveolar lavage fluid from children with severe Mycoplasma pneumoniae pneumonia reveals novel gene expression and immunodeficiency.
abstract: A growing number of severe Mycoplasma pneumoniae pneumonia (MPP) cases have been reported recently. However, the pathogenesis of severe MPP is not clear. In the current study, transcriptome sequencing was used to identify gene expression and alternative splicing profiles to provide insights into the pathogenesis of severe MPP.
  
  
  
  RNAs of bronchoalveolar lavage fluid (BALF) samples from three severe MPP children and three mild MPP children were analyzed respectively by deep sequencing followed by computational annotation and quantification.
  
  
  
  The gene expression analysis revealed 14 up-regulated and 34 down-regulated genes in severe MPP children comparing to mild MPP children. The top 10 most up-regulated genes were IGHV1-69, CH17-472G23.1, ATP1B2, FCER2, MUC21, IL13, FCRLB, CLEC5A, FAM124A, and INHBA. The top 10 most down-regulated genes were OSTN-AS1, IL22RA2, COL3A1, C1orf141, IGKV2-29, RP11-731F5.2, IGHV4-4, KIRREL, DNASE1L3, and COL6A2. Clustering analysis revealed similar expression pattern of CLEC5A, IL13, FCER2, and FLT1. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses revealed changes related to primary immunodeficiency in severe MPP children comparing to mild MPP children; the pathway involves CD19, TNFRSF13C, CD79A, and AICDA genes. Among the differentially expressed genes, significant alternative splicing events were found in FCER2 and FCRLA.
  
  
  
  The current study on RNA sequencing provides novel insights into the pathogenesis of severe MPP in terms of gene expression and alternative splicing. The up-regulation of IL13, FCER2, FLT1, and CLEC5A and the down-regulation of CD79A, AICDA, CD19, and TNFRSF13C may contribute to the pathogenesis of severe MPP. The differential expressions of FCER2 and FCRLA could be due to their alternative splicing.
authors.affiliation: Institute of Translational Medicine, the First Hospital of Jilin University, Changchun, 130061, China.
authors.forename: Kuo
authors.initials: K
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, the First Hospital of Jilin University, Changchun, 130021, China.
authors.forename: Man
authors.initials: M
authors.lastname: Gao
authors.affiliation: Institute of Translational Medicine, the First Hospital of Jilin University, Changchun, 130061, China.
authors.forename: Mingyue
authors.initials: M
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, the First Hospital of Jilin University, Changchun, 130021, China.
authors.forename: Fanzheng
authors.initials: F
authors.lastname: Meng
authors.affiliation: Department of Pediatrics, the First Hospital of Jilin University, Changchun, 130021, China.
authors.forename: Deli
authors.initials: D
authors.lastname: Li
authors.affiliation: Department of Pediatrics, the First Hospital of Jilin University, Changchun, 130021, China.
authors.forename: Ruihua
authors.initials: R
authors.lastname: Lu
authors.affiliation: Department of Pediatrics, the First Hospital of Jilin University, Changchun, 130021, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, the First Hospital of Jilin University, Changchun, 130021, China.
authors.forename: Huadong
authors.initials: H
authors.lastname: Zhuang
authors.affiliation: Bethune Medical School of Jilin University, Changchun, 130021, China.
authors.forename: Mengyao
authors.initials: M
authors.lastname: Li
authors.affiliation: Institute of Translational Medicine, the First Hospital of Jilin University, Changchun, 130061, China.|Department of Microbiology, Immunology and Molecular Genetics, University of California Los Angeles, Los Angeles, CA, 90095, USA.
authors.forename: Genhong
authors.initials: G
authors.lastname: Cheng
authors.affiliation: Institute of Translational Medicine, the First Hospital of Jilin University, Changchun, 130061, China. xiaosongwang@jlu.edu.cn.
authors.forename: Xiaosong
authors.initials: X
authors.lastname: Wang
mesh_terms: D017398:Alternative Splicing; D001992:Bronchoalveolar Lavage Fluid / Q000737:chemistry*; D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D009177:Mycoplasma pneumoniae / Q000502:physiology*; D011019:Pneumonia, Mycoplasma / Q000235:genetics* / Q000276:immunology* / Q000382:microbiology; D059467:Transcriptome
keywords: Alternative splicing; Bronchoalveolar lavage fluid; Children; Gene expression profile; Severe Mycoplasma pneumoniae pneumonia; Transcriptome sequencing