ArticleJCI insight2022
Immunogenetics associated with severe coccidioidomycosis.
Article in JCI insight, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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The trial behind it
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Who cites it
40 citing papers in PubMed, 49 citations in OpenAlex.
- Man-in-the-barrel syndrome caused by cervical arachnoiditis in refractory coccidioidal meningitis.Medical mycology case reports · 2026Article
- Genetic and transcriptomic determinants of disseminated coccidioidomycosis identify a founder variant inmedRxiv : the preprint server for health sciences · 2026Article
- Dual activation of NLRP3 and pyrin inflammasomes mediates host responses to the human fungal pathogen Coccidioides.Nature communications · 2026Article
- DNMT1-DUOXA1 axis discovers a novel methylation-ferroptosis circuit in bicalutamide-resistant prostate cancer.Redox biology · 2026Article
- Exhausted T cell phenotypes in disseminated coccidioidomycosis.JCI insight · 2026Article
- Th2 skewing in patients with disseminated coccidioidomycosis.JCI insight · 2026Article
- Immunocompetent host and mortality-related coccidioidomycosis: A case report and narrative review.Medical mycology case reports · 2026Article
- Exhausted T cell phenotypes in disseminated coccidioidomycosis.medRxiv : the preprint server for health sciences · 2026Article
- Current perspectives of host-pathogen dynamics in coccidioidomycosis.Current opinion in microbiology · 2026Review
- Urban soils along the Kern River and Los Gatos Creek are hotspots forbioRxiv : the preprint server for biology · 2026Article
- PLCG2 across human disease: genetic variants, signaling mechanisms, and clinical implications.Journal of translational medicine · 2026Review
- Type-2 immune skewing in patients with disseminated coccidioidomycosis.medRxiv : the preprint server for health sciences · 2025Article
- The Use of Genetics and Immunology in the Diagnosis and Care of Advanced Coccidioidomycosis: Where Are We Going?Journal of fungi (Basel, Switzerland) · 2025Article
- Article
- STAT3 haploinsufficiency is associated with autosomal dominant hyper-IgE syndrome.Science advances · 2025Article
- A case of delayed diagnosis of disseminated coccidioidomycosis highlights opportunities for improved awareness.ASM case reports · 2025Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.Journal of clinical immunology · 2025Article
- Uncovering hidden immune defects in childhood granulomatous disorders: a case report.Frontiers in immunology · 2025Article
- The Dectin-1 and Dectin-2 clusters: C-type lectin receptors with fundamental roles in immunity.EMBO reports · 2024Review
Corrections and comments
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Authors and funding
40 authors at 10 institutions in 5 countries.
Funding
Abstract
Disseminated coccidioidomycosis (DCM) is caused by Coccidioides, pathogenic fungi endemic to the southwestern United States and Mexico. Illness occurs in approximately 30% of those infected, less than 1% of whom develop disseminated disease. To address why some individuals allow dissemination, we enrolled patients with DCM and performed whole-exome sequencing. In an exploratory set of 67 patients with DCM, 2 had haploinsufficient STAT3 mutations, and defects in β-glucan sensing and response were seen in 34 of 67 cases. Damaging CLEC7A and PLCG2 variants were associated with impaired production of β-glucan-stimulated TNF-α from PBMCs compared with healthy controls. Using ancestry-matched controls, damaging CLEC7A and PLCG2 variants were overrepresented in DCM, including CLEC7A Y238* and PLCG2 R268W. A validation cohort of 111 patients with DCM confirmed the PLCG2 R268W, CLEC7A I223S, and CLEC7A Y238* variants. Stimulation with a DECTIN-1 agonist induced DUOX1/DUOXA1-derived hydrogen peroxide [H2O2] in transfected cells. Heterozygous DUOX1 or DUOXA1 variants that impaired H2O2 production were overrepresented in discovery and validation cohorts. Patients with DCM have impaired β-glucan sensing or response affecting TNF-α and H2O2 production. Impaired Coccidioides recognition and decreased cellular response are associated with disseminated coccidioidomycosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.