Publications by authors named "A Pagnier"
Background: Hereditary angioedema (HAE) in children has specific features and requires multidisciplinary management.
Methods: We performed a literature search and underwent in-depth discussions to provide practical tools for physicians.
Results: HAE is a rare, life-threatening genetic disorder.
Article Synopsis
- Hematological involvement (HI) is a serious condition associated with Langerhans cell histiocytosis (LCH), and is defined by low blood cell counts indicating potential life-threatening complications.
- A study of 2,313 children with LCH revealed that about 331 developed HI, with a distinction between mild (MHI) and severe HI (SHI), each showing different health outcomes and survival rates over 10 years.
- Recent advances in treatment have improved mortality rates, particularly with combination therapies and targeted treatments, sparking discussions about refining HI definitions to better inform treatment strategies.
The generation of an active [FeFe]-hydrogenase requires the synthesis of a complex metal center, the H-cluster, by three dedicated maturases: the radical S-adenosyl-l-methionine (SAM) enzymes HydE and HydG, and the GTPase HydF. A key step of [FeFe]-hydrogenase maturation is the synthesis of the dithiomethylamine (DTMA) bridging ligand, a process recently shown to involve the aminomethyl-lipoyl-H-protein from the glycine cleavage system, whose methylamine group originates from serine and ammonium. Here we use functional assays together with electron paramagnetic resonance and electron-nuclear double resonance spectroscopies to show that serine or aspartate together with their respective ammonia-lyase enzymes can provide the nitrogen for DTMA biosynthesis during in vitro [FeFe]-hydrogenase maturation.
View Article and Find Full Text PDFBackground: pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome.
Methods: We retrospectively reviewed clinical and genetic data of a French series of 29 -mutated MB.
Results: All patients developed SHH-MB, with a biallelic inactivation of found in 24 tumors.
Article Synopsis
- NLRP3-associated autoinflammatory disease is a collection of genetic disorders caused by mutations that lead to increased activity of the NLRP3 protein, which complicates diagnosis despite effective treatments available.
- The study explores 34 different NLRP3 mutations, illustrating their functional differences based on how they respond to various signals that activate them, and highlights their link to symptom severity and misdiagnosis.
- Findings reveal critical areas in the NLRP3 protein that affect its activity and response to treatments, offering new perspectives on the disorder's variability and potential directions for improving diagnosis and therapy.