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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy and Thrombosis

ABSTRACT: CD55 Deficiency, Early-Onset Protein-Losing Enteropathy and Thrombosis

PROVIDER: PRJNA389487 | ENA |

REPOSITORIES: ENA

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Homo sapiens

Project description:CD55 Deficiency, Early-Onset Protein-Losing Enteropathy and Thrombosis

| PRJNA389488 | ENA

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

Project description:BackgroundStudies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies.MethodsWe studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease; the disorder followed an autosomal recessive pattern of inheritance. Whole-exome sequencing was performed to identify gene variants. We evaluated the function of CD55 in patients' cells, which we confirmed by means of exogenous induction of expression of CD55.ResultsWe identified homozygous loss-of-function mutations in the gene encoding CD55 (decay-accelerating factor), which lead to loss of protein expression. Patients' T lymphocytes showed increased complement activation causing surface deposition of complement and the generation of soluble C5a. Costimulatory function and cytokine modulation by CD55 were defective. Genetic reconstitution of CD55 or treatment with a complement-inhibitory therapeutic antibody reversed abnormal complement activation.ConclusionsCD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) is caused by abnormal complement activation due to biallelic loss-of-function mutations in CD55. (Funded by the National Institute of Allergy and Infectious Diseases and others.).

| S-EPMC6690356 | biostudies-literature

Autosomal Recessive CD55 Deficiency

Project description:<p>We describe 11 patients from 8 families with homozygous LOF mutations in the complement regulatory protein CD55. Loss of CD55 is associated with increased complement activation, severe protein losing enteropathy accompanying a primary intestinal lymphangiectasia, and deep vein thrombotic events. We have named this disease CHAPLE after the principle components of the disease.</p>

| phs001376 | dbGaP

Pathway analysis of miRNA revealing immunologic alteration in lymphocyte immune response and T cell differentiation in Fontan patients with protein-losing enteropathy

Project description:Protein losing enteropathy (PLE) is a severe complication of Fontan circulation with increased morbidity and mortality. The underlying pathophysiologic mechanism leading to the development of PLE in Fontan patients remain largely unknown. We performed microarray-based microRNA (miRNA) expression profiling from whole blood to generate hypotheses about relevant pathways involved in PLE pathogenesis controlled by miRNA signature.

2020-05-01 | GSE130647 | GEO

Next Generation Sequencing Facilitates Quantitative Analysis of PIGS-KO, PIGS-HRD1-DKO, PIGS-HRD1-CD55-TKO, and PIGS-HRD1-CD55-TKO+HA-CD55 Transcriptomes

Project description:Purpose: Next-generation sequencing (NGS) has revolutionized systems-based analysis of cellular pathways. The goals of this study are to compare the genes expression difference at transcriptome level; Methods: Total RNA was extracted from whole cells with the mirVana miRNA Isolation Kit according to the manufacturer’s protocol. RNA quality and integrity were evaluated with an Agilent 2100 Bioanalyzer. Samples with an RNA integrity number (RIN) ≥ 7 were considered to be of high quality and were processed further and subjected to subsequent analysis. Total RNA-seq libraries were generated using 4 μg of total RNA, which was analyzed using the TruSeq Stranded mRNA LTSample Prep Kit. These libraries were then sequenced using the Illumina sequencing platform (HiSeqTM 2500 or Illumina HiSeq X Ten), and 125-bp/150-bp paired-end reads were generated. Results: The raw reads containing adaptors and the low-quality reads from the raw data were removed using Trimmomatic to obtain clean reads. Transcriptome sequencing was conducted by OE Biotech Co., Ltd. (Shanghai, China), and clean reads were provided. The clean reads were mapped to the hg38 reference genome using hisat2 (version 2.1.0). The output BAM files were converted to SAM files using SAMtools 1.9. The final TPM values were obtained using Stringtie 1.3.5. Conclusions: To understand the mechanistic basis of GPI biosynthesis upregulation by the CD55 precursor, we performed RNA- sequencing (RNA-seq) of samples of parental PIGS-HRD1-DKO, PIGS-HRD1-CD55-TKO, and PIGS-HRD1-CD55-TKO stably overexpressed HA-CD55 stably overexpressing cells. Total RNA was extracted and analyzed. The expression profile of GPI biosynthesis -related genes was not significantly affected by CD55.

2021-09-29 | GSE184822 | GEO

Agents which upregulate CD55 [decay accelerating factor (DAF)] expression [Array]

Project description:(Submitter supplied) Identification of transcription factors (TFs) which upregulate human CD55 expression. CD55 was originally described as a cellular complement regulator that protects self-cells from autologous complement attack. It is now known as cellular regulator which controls many functions of cells, as examples T cell commitment to T effector cells vs Foxp3+ T regulatory cells, B2 cell Ab production, and receptor tyrosine kinase (RTK) growth factor receptor function. Overlap of the arrays identified the immunosuppressive TF Kruppel Like Factor 4 (KLF4). The current study shows that CD55 functions jointly with KLF4.

2024-02-12 | GSE255080 | GEO

CD55 facilitates immune evasion by Borrelia crocidurae, an agent of relapsing fever

Project description:Effect of CD55 deletion on host response following Borrelia crocidurae infection in mice

2022-08-03 | GSE198510 | GEO

Transcriptomic analysis of intestinal biopsies in Zambian adults with environmental enteropathy

Project description:Study of adults with environmental enteropathy from residential area of Lusaka, Zambia

2021-07-15 | GSE179933 | GEO

Gene expression in duodenal biopsy samples from CVID enteropathy patients and healthy controls

Project description:A subgroup of CVID patients presents with gastrointestinal complications (enteropathy), which manifests in the duodenum as celiac like-diese ase. CVID enteropathy patients can present with severe histopathology in form of villous atrophy (CVID VA) or without VA (CVID noVA). RNAseq data from CVID VA and CVID noVA derived duodenal tissues were compared to each other and to healthy controls.

2023-02-10 | GSE189820 | GEO

Gene expression profile at single cell level of fixed CD55+ myeloid progenitors

Project description:Murine bone marrow CD55+ myeloid progenitors were fixed and submitted to Flex ScRNA-seq with CITE-seq in order to investigate eosinophil ontogeny and development.

2024-05-21 | GSE248899 | GEO

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