Neoantigens are prime targets for cancer immunotherapy, but their identification in low mutational burden malignancies remains challenging. In this issue of Immunity, Ehx et al. show that atypical transcripts, and particularly retained introns, expand the spectrum of leukemia immunotherapy targets.
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| http://dx.doi.org/10.1016/j.immuni.2021.03.016 | DOI Listing |
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Rightward brain structural asymmetry in young children with autism.
Mol Psychiatry
January 2025
Institute of Science and Technology for Brain-Inspired Intelligence, Fudan University, Shanghai, China.
To understand the neural mechanism of autism spectrum disorder (ASD) and developmental delay/intellectual disability (DD/ID) that can be associated with ASD, it is important to investigate individuals at an early stage with brain, behavioural and also genetic measures, but such research is still lacking. Here, using the cross-sectional sMRI data of 1030 children under 8 years old, we employed developmental normative models to investigate the atypical development of gray matter volume (GMV) asymmetry in individuals with ASD without DD/ID, ASD with DD/ID and individuals with only DD/ID, and their associations with behavioral and clinical measures and transcription profiles. By extracting the individual deviations of patients from the typical controls with normative models, we found a commonly abnormal pattern of GMV asymmetry across all ASD children: more rightward laterality in the inferior parietal lobe and precentral gyrus, and higher individual variability in the temporal pole.
View Article and Find Full Text PDFMmuPV1 infection of Tmc6/Ever1 or Tmc8/Ever2 deficient FVB mice as a model of βHPV in typical epidermodysplasia verruciformis.
PLoS Pathog
January 2025
Department of Pathology, Johns Hopkins University, Baltimore, Maryland, United States of America.
Typical epidermodysplasia verruciformis (EV) is a rare, autosomal recessive disorder characterized by an unusual susceptibility to infection with specific skin-trophic types of human papillomavirus, principally betapapillomaviruses, and a propensity for developing malignant skin tumors in sun exposed regions. Its etiology reflects biallelic loss-of-function mutations in TMC6 (EVER1), TMC8 (EVER2) or CIB1. A TMC6-TMC8-CIB1 protein complex in the endoplasmic reticulum is hypothesized to be a restriction factor in keratinocytes for βHPV infection.
View Article and Find Full Text PDFA diagnostic host-specific transcriptome response for Mycoplasma pneumoniae pneumonia to guide pediatric patient treatment.
Nat Commun
January 2025
Unidade de Xenética, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, 15782, Calle San Francisco sn, Galicia, Spain.
Mycoplasma pneumoniae causes atypical pneumonia in children and young adults. Its lack of a cell wall makes it resistant to beta-lactams, which are the first-line treatment for typical pneumonia. Current diagnostic tests are time-consuming and have low specificity, leading clinicians to administer empirical antibiotics.
View Article and Find Full Text PDFNAB2::STAT6 Rearranged Carcinoma of the Parotid Gland with Sebaceous Differentiation: A Case Report.
Head Neck Pathol
January 2025
Department of Pathology, University Medical Center Utrecht, Utrecht, 3508 GA, The Netherlands.
Purpose: The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.
View Article and Find Full Text PDFAtypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights.
Int J Mol Sci
January 2025
Centro de Investigación Biomédica en Red de Cáncer, CIBERONC CB16/12/00284, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease progression. Here, we report an atypical case of iAMP21 B-ALL with a unique molecular profile in the context of r(21)c.
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