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Yoni Maisel

@Primary_Immune

Jun 14

🦠Sars-Cov-2 severity and mortality has - sadly - been particularly high ⬆️among individuals with Down Syndrome.
Insightful commentary on how and why:
nature.com/articles/s4157… #WomenInSTEM #openscience #itrtg #iot #immunology #scicomm

Some earlier background on vulnerability of individuals with Down Syndrome to life-threatening COVID-19 science.org/content/articl… #openscience #scicomm

Infections and immunodeficiency in Down syndrome
ncbi.nlm.nih.gov/pmc/articles/P…

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Yoni Maisel

@Primary_Immune

Jun 14

New clues as to why
Common Variable Immunodeficiency patients
(like me 👤) may have non-protective #COVID19
immunity, despite being 💉fully-vaxxed
mdpi.com/2073-4409/11/1… #womeninSTEM single cell #openscience #bigdata #immunology #snrtg

"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.

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Yoni Maisel

@Primary_Immune

Jun 14

“It was quite a surprise for us to find that this gene is a
critical part of our immune system"
_News: utsouthwestern.edu/newsroom/artic… #bioinformatics single cell #openscience #scicomm #snrtg
_Journal: science.org/doi/10.1126/sc… #immunology #genomics #raredisease

"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."

Genotypes, phenotypes,
and faces of "Trichohepatoenteric Syndrome"
- some of the earliest known cases
cell.com/action/showPdf… #openscience #bioinformatics #scicomm

Read 5 tweets

Yoni Maisel

@Primary_Immune

Jun 11

Fatal ⚠️Inborn Error of Immunity🧬
"We present the first reported case of progressive multifocal leukoencephalopathy due to a mutation in the RAC2 gene"
jmedicalcasereports.biomedcentral.com/articles/10.11… #bioinformatics #openscience #snrtg #genomics #raredisease #immunology

"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

Read 4 tweets

Yoni Maisel

@Primary_Immune

Jun 2

Sars-Cov-2 and the brain:
🧠Encephalopathy and
sudden-onset ⚠️Parkinson's* ⚠️symptoms
...in a 31 year-old man
e-jmd.org/upload/jmd-210… #WomenInSTEM #iot #snrtg #openscience #scicomm

Not "just like the flu"
Please💉get vaccinated💉

"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."

Read 8 tweets

Yoni Maisel

@Primary_Immune

May 31

@JPediatr

🗓️ Published 7⃣0⃣ years ago today
The Primary Immunodeficiency world's seminal paper
"A hitherto unrecocognized entity with complete absence of gamma globulin"
publications.aap.org/pediatrics/art… #bioinformatics #openscience #scicomm #itrtg #imunology #raredisease @JPediatr @AmerAcadPeds

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)

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