Vimel Rattina
A5059683026- Immunodeficiency and Autoimmune Disorders
- Whipple's Disease and Interleukins
- Blood disorders and treatments
- T-cell and Retrovirus Studies
- Mycobacterium research and diagnosis
- Lymphoma Diagnosis and Treatment
- Parvovirus B19 Infection Studies
- Diabetes and associated disorders
- Liver physiology and pathology
- RNA regulation and disease
- Immune Cell Function and Interaction
- TGF-β signaling in diseases
- Plant Virus Research Studies
- Tuberculosis Research and Epidemiology
- T-cell and B-cell Immunology
- Immune cells in cancer
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cocoa and Sweet Potato Agronomy
- Coffee research and impacts
- interferon and immune responses
- Viral-associated cancers and disorders
- Liver Disease Diagnosis and Treatment
- RNA Research and Splicing
- Helicobacter pylori-related gastroenterology studies
University of Lausanne
2023
Inserm
2017-2019
Institut des Maladies Génétiques Imagine
2017-2019
Université Paris Cité
2017-2019
Institut de Génétique Humaine
2018
Nestlé (France)
2018
Institut Necker Enfants Malades
2017
Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN immunity. We report a 5-yr-old child with severe at 2 yr. She is homozygous for loss-of-function IRF9 allele. Her cells activate gamma-activated factor (GAF) STAT1 homodimers but not IFN-stimulated gene 3 (ISGF3) trimers (STAT1/STAT2/IRF9) in response to IFN-α2b. The transcriptome induced IFN-α2b the patient's much narrower than that control cells; however, induction subset transcripts remains...
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations underlies an autosomal dominant form hyper-immunoglobulin E syndrome (HIES). We describe patients with recessive HIES due to loss-of-function a previously uncharacterized gene, ZNF341 is factor that resides in the nucleus, where it binds specific DNA motif present various genes, including STAT3 promoter. The patients' cells have low basal levels mRNA protein. autoinduction...
Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding p40phox subunit phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families 8 countries. These display different in-frame or out-of-frame that are homozygous 11 and compound heterozygous another. When overexpressed NB4 neutrophil-like cells EBV-transformed B vitro, mutant alleles were found to be LOF, with exception p.R58C c.120_134del alleles,...
Summary Coffee species such as Coffea canephora P. (Robusta) and C. arabica L. (Arabica) are important cash crops in tropical regions around the world. is an allotetraploid (2 n = 4 x 44) originating from a hybridization event of two diploid eugenioides 2 22). Interestingly, these progenitor harbour greater level genetic variability source genes to broaden narrow Arabica base. Here, we describe development, evaluation use single‐nucleotide polymorphism ( SNP ) array for coffee trees. A total...
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Despite the astonishing progress in treating chronic hepatitis C virus (HCV) infection with direct-acting antiviral agents, liver fibrosis remains a major health concern HCV infected patients, particular due to treatment cost and insufficient screening many countries. Only fraction of patients develop fibrosis. While there is evidence that host genetic factors are involved development fibrosis, common variants identified so far, by genome-wide association studies, were found have limited...
Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34-q36.3 16-year-old girl originally from West Indies. Similar to previously reported cases chromosome 7q terminal deletions, our patient has dental malposition, (growth intellectual) delay. Novel phenotypic features include endemic Kaposi sarcoma (KS), furrowed tongue, thoracolumbar scoliosis, mild mitral valve...
Abstract The pathogenesis of Whipple’s disease (WD) remains largely unknown, as WD strikes only a very small minority the individuals infected with Tropheryma whipplei (Tw). Asymptomatic carriage Tw is less rare. We studied large multiplex French kindred, containing four otherwise healthy patients (mean age: 76.7 years) and five carriers 55 years). used strategy combining genome-wide linkage analysis whole-exome sequencing to test hypothesis that inherited in an autosomal dominant (AD)...