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| http://dx.doi.org/10.1111/jth.14479 | DOI Listing |
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Intravenous Immunoglobulin Therapy for Pyoderma Gangrenosum: A Multicenter Retrospective Analysis in 81 Patients.
Am J Clin Dermatol
November 2024
Department of Dermatology, Uniklinikum Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Ulmenweg 18, 91054, Erlangen, Germany.
Background: Pyoderma gangrenosum (PG) is rare neutrophil skin disease causing painful, progressively enlarging ulcers. Among the treatment options, intravenous immunoglobulin (IVIG) is a therapy of first choice for paraneoplastic PG. Otherwise, it is used in therapy-refractory courses.
View Article and Find Full Text PDFClinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Clin Immunol
November 2024
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:
While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene panel. Variants were classified and curated through expert review.
View Article and Find Full Text PDFSpliceVarDB: A comprehensive database of experimentally validated human splicing variants.
Am J Hum Genet
October 2024
Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Sydney, NSW, Australia. Electronic address:
Variants that alter gene splicing are estimated to comprise up to a third of all disease-causing variants, yet they are hard to predict from DNA sequencing data alone. To overcome this, many groups are incorporating RNA-based analyses, which are resource intensive, particularly for diagnostic laboratories. There are thousands of functionally validated variants that induce mis-splicing; however, this information is not consolidated, and they are under-represented in ClinVar, which presents a barrier to variant interpretation and can result in duplication of validation efforts.
View Article and Find Full Text PDFExpanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.
Front Immunol
July 2024
Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL, United States.
Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the gene that typically results in truncation of the carboxyl terminus of C-X-C chemokine receptor type 4 (CXCR4) leading to impaired leukocyte egress from bone marrow to peripheral blood. Diagnosis of WHIM syndrome continues to be challenging and is often made through clinical observations and/or genetic testing. Detection of a pathogenic variant in an affected individual supports the diagnosis of WHIM syndrome but relies on an appropriate annotation of disease-causing variants.
View Article and Find Full Text PDFGenomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Clin J Am Soc Nephrol
July 2024
KidGen Collaborative, Australian Genomics Health Alliance, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Article Synopsis
- About 25% of patients with unexplained kidney failure have a genetic cause, specifically related to monogenic disorders.
- A study explored the effectiveness of whole genome sequencing (WGS) combined with broad gene panel analysis in diagnosing these cases, finding it to be a viable method for identifying genetic mutations.
- Among 100 participants aged ≤50 with stage 5 chronic kidney disease, a genetic diagnosis was reached in 25%, with a higher likelihood of positive results in those with a family history of chronic kidney disease.
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