Majed Dasouki

TL;DR: Among all randomly assigned patients with Fabry's disease (with mutant α-galactosidase forms that were suitable or not suitable for migalastat therapy), the percentage of patients who had a response at 6 months did not differ significantly between the migAlastat group and the placebo group.

TL;DR: Mutation suppression of stop codons, successfully achieved in the mdx mouse using gentamicin, represents an important evolving treatment strategy in Duchenne muscular dystrophy (DMD).

TL;DR: DOCK8 functions as an adaptor in a TLR9-MyD88 signaling pathway in B cells, which drives B cell proliferation and immunoglobulin production driven by Toll-like receptor 9.

TL;DR: DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures.

TL;DR: Patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis, which confirms the important role of fibulin-4 in vascular elastic fiber assembly and provides the first evidence for the involvement of altered TGFβ signaling in the pathogenesis of FBLn4 mutations in humans.