Publications by authors named "Sandrine Baron-Joly"
Article Synopsis
- - Kabuki syndrome (KS) is now categorized as a rare disease linked to genetic variants in KMT2D and KDM6A, primarily characterized by intellectual disability and unique facial features, often seen in patients with autoimmune cytopenia (AIC).
- - A study involving 11 patients with KS and AIC revealed that all had chronic immune thrombocytopenic purpura, with many also experiencing Evans syndrome and low immunoglobulin levels, highlighting a median of 8 KS-related symptoms per patient.
- - Despite ongoing treatment needs, with eight patients receiving second-line therapies like rituximab, the research advocates for prompt identification of KS by pediatricians to ensure effective clinical management and long-term care strategies.
Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. This is highlighted by the DOCK2 and DOCK8 deficiencies leading to actinopathies and immune deficiencies. DOCK8 and DOCK11 activate CDC42, a Rho-guanosine triphosphate hydrolases involved in actin cytoskeleton dynamics, among many cellular functions.
View Article and Find Full Text PDFBackground: Miller Fisher syndrome, a variant of Guillain-Barré syndrome, is an acute inflammatory demyelinating polyradiculoneuropathy that may occur weeks after a bacterial or viral infection. Campylobacter jejuni and Haemophilus influenzae are frequently reported etiological agents.
Patient Description: We describe a boy with Miller Fisher syndrome following Epstein-002DBarr virus primary infectious mononucleosis.