ArticleClinical immunology (Orlando, Fla.)2019
A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation.
Article in Clinical immunology (Orlando, Fla.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
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- Successful CNS-Centric Therapeutic Management and Genomic Profiling of Primary Cranial Vault Diffuse Large B-Cell Lymphoma.Journal of blood medicine · 2023Article
- Human variation in population-wide gene expression data predicts gene perturbation phenotype.iScience · 2022Article
- Detection of c.755T>C; p.L265P/c.751C>T;p.264R/* compound heterozygousIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2021Article
- Disease Presentation, Treatment Options, and Outcomes for Myeloid Immunodeficiencies.Current allergy and asthma reports · 2021Review
- Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation inFrontiers in pediatrics · 2020Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in MYD88 cause susceptibility to invasive bacterial infections through impaired signaling downstream of toll-like receptors (TLRs) and IL-1 receptors. We studied a patient presenting with neutropenia, delayed umbilical cord separation, BCG adenitis, andP. aeruginosapneumonia. Next-generation DNA sequencing identified a novel homozygous truncation mutation in MYD88 that abolishes MyD88 expression. The patient's dermal fibroblasts had severely impaired IL-6 production after stimulation with ligands for the MyD88-dependent receptors TLR2, TLR4 and IL-1R, while responses to ligands for the MyD88-independent receptors TLR3 and TNF-α were preserved. Notably, secretion of TNF-α, which is essential for BCG control, was also impaired after LPS stimulation. In this first report of BCG infection in MyD88 deficiency, data suggest that MyD88-dependent TNF-α production contributes to control of mycobacterial disease.
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