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Jun 17 • 4 tweets • 4 min read
🧬"Recessive complete deficiencies of typeI IFN immunity may underlie ∼10% of hospitalizations for COVID-19 🦠pneumonia 🫁 in children"
👥It DID in these 12 youngsters
#bioinformatics #openscience #scicomm #WomenInSTEM #immunology #genomics #raredisease Image
Great work as always by Prof Jean-Laurent @casanova_lab & Co in elucidating genetic susceptibility to SarsCov2. Direct link to the paper: rupress.org/jem/article/21…
The current paper continues this line of research:
"Inborn errors of type I IFN immunity in patients
with life-threatening COVID-19"
science.org/doi/10.1126/sc… #openscience #scicomm
🧬👍The COVID Human Genetic Effort
covidhge.com #openscience

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More from @Primary_Immune

Yoni Maisel Profile picture
Jun 19
. 🦠#COVID19 ⚠️F*CKing⚠️with the
brain🧠and body
of this 15 year-old boy. Real badly.
onlinelibrary.wiley.com/doi/10.1002/cc… #WomenInSTEM #openscience #scicomm #snrtg #immunology #neurology
COVID-19 is NOT "just like the flu."
COVID-19 is NOT "just like the flu."
COVID-19 is NOT "just like the flu."
"Cerebellar examination revealed impaired finger to nose, heel to shin, and rapid alternative movements. Gait was ataxic and he could not walk without help."
* in a previously healthy young man
Read 5 tweets
Yoni Maisel Profile picture
Jun 19
. 🦠COVID is not over ❗️
⬆️Big recent increases here in my country 🇮🇱 ; a fresh new wave.
1⃣new cases: gov.il/en/departments… 2⃣hospitalizations: timesofisrael.com/israel-sees-sh… #COVID19 #openscience #rstats #serverless #snrtg #Israel Image
I was not expecting a new COVID wave until at least Autumn. I was wrong.
🦠SarsCov2 is unpredictable. It does not abide by seasons.
The figure of new cases could be a vast underestimation:
"Israel's Covid czar: Likely up to 20,000 cases
every day in current outbreak"
i24news.tv/en/news/corona… #scicomm #COVID19 #Israel #openscience
Read 5 tweets
Yoni Maisel Profile picture
Jun 18
One of the most devastating and heart-wrenching of the
~7,000 known rare diseases
A novel mutation🧬identified in
*⃣ "Epidermolysis Bullosa"*⃣
bmcmedgenomics.biomedcentral.com/articles/10.11… #bioinformatics #openscience #100daysofcode #snrtg #genomics #raredisease Image
Young patients with Epidermolysis Bullosa are known as
"Butterfly Children"
A novel gene therapy has shown dramatic and promising results for some of them:
science.org/content/articl… #openscience #biotech #scicomm Image
Epidemolysis Bullosa: frequently referred to as
'The worst disease you've never heard of'
chron.com/life/health/ar… #openscience #raredisease #scicomm
Read 4 tweets
Yoni Maisel Profile picture
Jun 18
⚠️Potentially dangerous
new 🦠#COVID19 variants🧬
▪️The pandemic won't end until we prevent this phenomenon
❗️Get💉 vaxxed to shield & protect the immunocompromised
ijidonline.com/article/S1201-… #bioinformatics #WomenInSTEM #openscience #snrtg #immunology #genomics #raredisease Image
. "NOBODY is safe from the virus until
we are ALL safe from the virus"
~Dr. Tedros Ghebreyesus (WHO Director General)
Viruses🦠do strange things when unchallenged for long periods of times in hosts.
Unfortunately mutating🧬is one of those things.
Read 8 tweets
Yoni Maisel Profile picture
Jun 17
Socialized Medicine:
Today I ended a week a of I.V.💉antibiotic Rx for a severe 🦠infection.
The Rx was at my home🏠by an MD & nurse. Due to my immunodeficiency my HMO didn't want me in a potentially-dangerous hospital setting.
Today I got the bill: 380 shekel (🇮🇱)
~90 US💲
"Socialized Medicine" gets a bad-rap by many.
To me it means kind, compassionate, expert care that is inexpensive and affordable.
The ~$90 included lab-workup, the I.V. antibiotics, and the at-home infusions themselves.
Read 5 tweets
Yoni Maisel Profile picture
Jun 17
New 🧬genetic loci linked to #COVID19 🦠susceptibility
♂️ ♀️ with gender specificity
- Results from a huge 🇪🇸 Spanish GWAS study
academic.oup.com/hmg/advance-ar… #bioinformatics #openscience #scicomm #immunology #virology #snrtg #genomics Image
🦠🧬'...variants in 3p21.31 and 21q22.11 loci only among males ♂️; and variants in 9q21.32 near TLE1 only among females ♀️'
Evidence continues to accumulate that:
at least *⃣ for some *⃣ , susceptibility to severe and fatal 🦠COVID may lie in the genes🧬.
Read 4 tweets

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