"RNA 🧬exosome is crucial for B cell development,
➡️and defects can lead to severe human disease."
Mutations in the SKIV2L gene are associated with a severe inherited disorder, trichohepatoenteric syndrome (THES), with multisystem involvement but unknown disease mechanism."
"36% of CVID patients did not produce anti-SARS-CoV-2 IgG or IgA antibodies.
Non responders had lower peripheral blood lymphocyte counts, circulating naïve and central memory T-cells, low CD40L expression on the CD4+CD45+RO+ and CD8+CD45+RO+ T-cells, high frequencies of TNFα..."
Fellow Common Variable Immunodeficiency patients:
Vaxxed💉and boosted💉does not necessarily mean
protected from 🦠Sars-Cov2. Wear😷mask.
"PML has been reported as a fatal complication in 26 patients with Primary Immunodefiiency due to various gene mutations. Our patient is the first case reported with PML due to mutations in the RAC2 gene."
Progressive Multifocal Leukoencephalopathy (PML):
▪️ rare, oft-times fatal disease resulting in destruction of the brain's white matter
🦠strongly associated with exposure to 'John Cunningham Polyomavirus'" sciencedirect.com/topics/medicin…#openscience#scicomm
"He was disorientated but able to follow simple
commands. He had involuntary jaw opening with slow rhythmic movements of his lower facial muscles at rest, which also interfered with his speech. He had reduced eye blinking, hypometric horizontal saccade and jerky pursuit."
Not the first Primary Immunodeficiency described as many think - the 3rd in fact - but the most impactful. It launched major interest in the study of these rare immune disorders.
Authored by the late Dr / Col Ogden Bruton, a legend in the Primary Immunodeficiency world.
One of my personal heroes: The late Dr / Col Ogden Bruton (right).
The immune disorder he IDd bears his name: "Bruton's Agammaglobulinemia."
(photo: circa 1954 at Walter Reed Army Hospital where he practiced as a pediatric immunologist)