Publications by authors named "M Pacault"
Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.
View Article and Find Full Text PDFBackground: exon 14 (ex14) skipping mutations are oncogenic drivers observed in approximately 3-4% of non-small cell lung cancers (NSCLC). Several distinct genetic alterations leading to METex14 have been reported but clinical significances of rare mutations are not well defined as well as outcomes of patients upon MET inhibitors (METi).
Case Presentation: This report presents the case of a patient with metastatic NSCLC harboring an uncommon mutational landscape including notably a novel ex14 mutation (R1022L).
Article Synopsis
- The study compares the development and implementation of non-invasive prenatal diagnosis of monogenic diseases (NIPD-MD) with fetal aneuploidy screening, noting that NIPD-MD has had a slower growth due to commercial factors and the need for custom tests.
- A review of literature on NIPD-MD technologies reveals that it has been routinely offered in France, but is mainly used for excluding specific genetic variants rather than fully analyzing maternal variants.
- The complexity of analyzing fetal DNA from maternal circulation poses challenges, but advancements in screening solutions and a comprehensive understanding of ethical concerns can enhance prenatal care for families at risk of genetic diseases.
Article Synopsis
- Hereditary erythrocytosis is a rare condition with excessive red blood cell production, and a study involved 2,160 patients across Europe focusing on the EGLN1 gene.
- Researchers identified 39 mutations in the EGLN1 gene, including one deletion, which encodes the PHD2 enzyme that regulates the hypoxia-inducible factor.
- The study assessed the effects of these mutations through various methods, identifying 16 as pathogenic, and highlighted the importance of collaborative research in addressing rare genetic disorders.
Article Synopsis
- Non-invasive prenatal diagnosis for single-gene disorders has evolved to better assess maternal allele inheritance, but challenges remain in error control and quality assessment.
- The enhanced-RHDO (eRHDO) procedure introduces an automated bioinformatics pipeline to improve analysis accuracy, validated by studying 43 families with specific genetic mutations.
- Testing on a separate cohort of 56 pregnancies demonstrated the method's effectiveness, achieving a 94.9% success rate in determining fetal genotypes without errors, offering a standardized protocol for labs to incorporate.