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Germline hypomorphic CARD11 mutations in severe atopic disease

ABSTRACT: Germline hypomorphic CARD11 mutations in severe atopic disease

PROVIDER: PRJNA386065 | ENA |

REPOSITORIES: ENA

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Germline hypomorphic CARD11 mutations in severe atopic disease.

Project description: Not available

| S-EPMC5664152 | biostudies-literature

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Project description:Germline hypomorphic CARD11 mutations in severe atopic disease

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Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells

Project description:Several “primary atopic disorders” are linked to monogenic defects that attenuate TCR signaling, favoring T helper 2 (TH2) cell differentiation. Patients with CARD11-associated atopy with dominant interference of NF-κB signaling (CADINS) disease suffer from severe atopy, caused by germline loss-of-function/dominant interfering (LOF/DI) CARD11 variants. The CARD11 scaffold enables TCR-induced activation of NF-κB, mTORC1, and JNK signaling, yet the function of CARD11-dependent JNK signaling in T cells remains nebulous. Here we show that CARD11 is critical for TCR-induced activation of JNK1 and JNK2, as well as canonical JUN/FOS AP-1 family members. Patient-derived CARD11 DI variants attenuated wild-type CARD11 JNK signaling, mirroring effects on NF-κB. Transcriptome profiling revealed JNK inhibition upregulated TCR-induced expression of GATA3 and NFATC1, key transcription factors for TH2 cell development. Further, impaired CARD11-JNK signaling was linked to enhanced GATA3 expression in CADINS patient T cells. Our findings reveal a novel intrinsic mechanism connecting impaired CARD11-dependent JNK signaling to enhanced GATA3/NFAT2 induction and TH2 cell differentiation in CADINS patients.

2025-02-28 | GSE288360 | GEO

Effect of glutamine supplementation on naïve CD4 T cell differentiation from CARD11 R75W mutation patients

Project description:CARD11 LOF mutant patients develop severe atopic phenotpes and increased T-helper 2 (Th2) cytokine production, in addition to other immunopathology. CARD11 LOF impairs lymphocyte receptor–mediated glutamine uptake—thereby reducing signaling in mTORC1. Herein, we investigate whether exogenous glutamine treatment would alleviate Th2 phenotypes of CARD11 LOF mutant T cells.

2025-01-20 | GSE287077 | GEO

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

Project description:OSMRβ (Oncostatin M receptor beta), a member of the IL-6 superfamily of cell surface receptors, binds OSM and IL-31 and plays a critical role in human immunity. We identified probands from four kindreds with biallelic damaging variants in OSMR, which encodes OSMRβ. Patients had a unifying phenotype for severe widespread, early-onset atopic dermatitis, peripheral eosinophilia, and elevated serum IgE. Patient OSMRβ variants were not appropriately expressed on the cell surface compared to OSMRβWT. Patient OSMR variants showed significantly reduced OSM-mediated activation of STAT1, STAT3, and STAT5 and distinct transcriptional changes in primary dermal fibroblasts, including loss of interferon and inflammatory signatures. These defects were rescued upon lentiviral transduction of WT-OSMR. Together, these data establish that human germline biallelic loss-of-function OSMR variants cause severe allergic disease. We anticipate that this discovery will facilitate the recognition of additional affected individuals and the full definition of this novel primary atopic disorder.

2026-05-05 | GSE303962 | GEO

OCI-Ly3 CARD11 shRNA

Project description:Activation of NFkB pathway by CARD11 Cy3-labelled untreated sample and Cy5-labelled treated sample were hybridized to a Lymphochip microarray.

2010-07-01 | E-GEOD-3896 | biostudies-arrayexpress

OCI-Ly3 CARD11 shRNA

Project description:Activation of NFkB pathway by CARD11 Keywords: time series design

2006-03-30 | GSE3896 | GEO

Bcl11b hypomorphic mutant thymocytes

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Severe congenital neutropenia with syndromic features in a patient with homozygous hypomorphic DBF4 mutation

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Blocking IL-4Rα with dupilumab (REGN668/SAR231893) rapidly suppresses major pathomechanisms in the skin of severe atopic dermatitis patients

Project description:Atopic dermatitis (AD) is the most common inflammatory skin disease, with high unmet need for new therapies that are safe for chronic use. Emerging data suggest that TH2-cytokines play important roles in a variety of allergic and atopic conditions, including asthma and AD. In early phase clinical trials, dupilumab (a fully human monoclonal antibody against IL-4Rα that potently blocks IL-4 and IL-13 signaling) rapidly and markedly improved clinical measures in adults with either asthma (with elevated eosinophil counts) or moderate-to-severe AD. The pathomechanisms that may be impacted by IL-4/13 blockade in these disease settings have not yet been characterized in detail. Transcriptome analyses in pre- and post-treatment skin biopsies from patients with moderate-to-severe AD treated with dupilumab or placebo in two completed clinical trials

2014-12-04 | GSE59294 | GEO

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