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Caspase recruitment domain (CARD) family (CARD9, CARD10, CARD11, CARD14 and CARD15) are increased during active inflammation in patients with inflammatory bowel disease.

ABSTRACT: Background:The CARD family plays an important role in innate immune response by the activation of NF-?B. The aim of this study was to determine the gene expression and to enumerate the protein-expressing cells of some members of the CARD family (CARD9, CARD10, CARD11, CARD14 and CARD15) in patients with IBD and normal controls without colonic inflammation. Methods:We included 48 UC patients, 10 Crohn's disease (CD) patients and 18 non-inflamed controls. Gene expression was performed by RT-PCR and protein expression by immunohistochemistry. CARD-expressing cells were assessed by estimating the positively staining cells and reported as the percentage. Results:The CARD9 and CARD10 gene expression was significantly higher in UC groups compared with CD (P?< 0.001). CARD11 had lower gene expression in UC than in CD patients (P?< 0.001). CARD14 gene expression was higher in the group with active UC compared to non-inflamed controls (P?< 0.001). The low expression of CARD14 gene was associated with a benign clinical course of UC, characterized by initial activity followed by long-term remission longer than 5 years (P?= 0.01, OR?=?0.07, 95%CI:0.007-0.70). CARD15 gene expression was lower in UC patients versus CD (P?= 0.004). CARD9 protein expression was detected in inflammatory infiltrates; CARD14 in parenchymal cells, while CARD15 in inflammatory and parenchymal cells. CARD9-, CARD14- and CARD15?-?expressing cells were significantly higher in patients with active UC versus non-inflamed controls (P?< 0.05). Conclusion:The CARD family is involved in the inflammatory process and might be involved in the IBD pathophysiology.

SUBMITTER: Yamamoto-Furusho JK

PROVIDER: S-EPMC6042317 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Caspase recruitment domain (CARD) family (CARD9, CARD10, CARD11, CARD14 and CARD15) are increased during active inflammation in patients with inflammatory bowel disease.

Yamamoto-Furusho Jesús K JK Fonseca-Camarillo Gabriela G Furuzawa-Carballeda Janette J Sarmiento-Aguilar Andrea A Barreto-Zuñiga Rafael R Martínez-Benitez Braulio B Lara-Velazquez Montserrat A MA

Journal of inflammation (London, England) 20180711

<h4>Background</h4>The CARD family plays an important role in innate immune response by the activation of NF-κB. The aim of this study was to determine the gene expression and to enumerate the protein-expressing cells of some members of the CARD family (CARD9, CARD10, CARD11, CARD14 and CARD15) in patients with IBD and normal controls without colonic inflammation.<h4>Methods</h4>We included 48 UC patients, 10 Crohn's disease (CD) patients and 18 non-inflamed controls. Gene expression was perform ...[more]

PMID: 30008619

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Project description:BACKGROUND:Caspase activation and recruitment domain 11 (CARD11) encodes a scaffold protein in lymphocytes that links antigen receptor engagement with downstream signaling to nuclear factor ?B, c-Jun N-terminal kinase, and mechanistic target of rapamycin complex 1. Germline CARD11 mutations cause several distinct primary immune disorders in human subjects, including severe combined immune deficiency (biallelic null mutations), B-cell expansion with nuclear factor ?B and T-cell anergy (heterozygous, gain-of-function mutations), and severe atopic disease (loss-of-function, heterozygous, dominant interfering mutations), which has focused attention on CARD11 mutations discovered by using whole-exome sequencing. OBJECTIVES:We sought to determine the molecular actions of an extended allelic series of CARD11 and to characterize the expanding range of clinical phenotypes associated with heterozygous CARD11 loss-of-function alleles. METHODS:Cell transfections and primary T-cell assays were used to evaluate signaling and function of CARD11 variants. RESULTS:Here we report on an expanded cohort of patients harboring novel heterozygous CARD11 mutations that extend beyond atopy to include other immunologic phenotypes not previously associated with CARD11 mutations. In addition to (and sometimes excluding) severe atopy, heterozygous missense and indel mutations in CARD11 presented with immunologic phenotypes similar to those observed in signal transducer and activator of transcription 3 loss of function, dedicator of cytokinesis 8 deficiency, common variable immunodeficiency, neutropenia, and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome. Pathogenic variants exhibited dominant negative activity and were largely confined to the CARD or coiled-coil domains of the CARD11 protein. CONCLUSION:These results illuminate a broader phenotypic spectrum associated with CARD11 mutations in human subjects and underscore the need for functional studies to demonstrate that rare gene variants encountered in expected and unexpected phenotypes must nonetheless be validated for pathogenic activity.

Dataset Information

Caspase recruitment domain (CARD) family (CARD9, CARD10, CARD11, CARD14 and CARD15) are increased during active inflammation in patients with inflammatory bowel disease.

Publications

Caspase recruitment domain (CARD) family (CARD9, CARD10, CARD11, CARD14 and CARD15) are increased during active inflammation in patients with inflammatory bowel disease.

Similar Datasets

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