Pediatric🧬Inborn Error of Immunity⚠️
*⃣ "mutations in RIPK1 are
a 🆕monogenic form of IBD"
Great work by Israeli 🇮🇱, Palestinian 🇵🇸 & US 🇺🇸 researchers
frontiersin.org/articles/10.33… #bioinformatics #datascience #iot #snrtg #openscience #raredisease #gastro #genomics #immunology Image
Atypical, severe, immuno- phenotype in young patient(s)' ❓
➡️Think🤔 genetic
⬇️
Sequence her/his🧬DNA.
⬇️
Seek 🔎clues in the genome!
Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬.
Clues to rare immune disorders are still hiding in the genome, waiting to be discovered.
Case-in-point:
Inflammatory Bowel Disease
in infants.
IN INFANTS ⁉️
... in this case, it's congenital and genetically associated.

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More from @Primary_Immune

Nov 19
Immunodeficient life:
I broke a tooth 🦷 while eating a sandwich 🍞with cherry 🍒jelly because a pit in one of the cherries was missed and not removed.
It is now badly 🦠infected
- I am on 3⃣ 💊antibiotics with high 🌡️ fever.
Tomorrow 🏥I have to have the abcess🩸 drained.
Antibiotics will be changed from oral to I.v. if the fever fails to resolve by tomorrow.
I'm told hospitalization is a real possibility.
From a pit, in a cherry, in jelly.
Immunodeficient life means:
getting emergency ☎️ phone calls from your GP,
immunologist, and infectious-disease specialist
at 10PM⌚️on a Saturday night.
Read 4 tweets
Nov 17
A long battle for survival in a
Sars-Cov-2🦠➕Aspergillosis🦠co-infected
⚠️immunocompromised⚠️patient
(post- stem-cell transplant for leukemia)
ncbi.nlm.nih.gov/pmc/articles/P… #bioinformatics #itrtg #datascience #serverless #openscience #iot #raredisease #immunology #COVIDIsAirborne Image
These scenarios are unique to the
⚠️immunocompromised & immunodeficient⚠️.
If you are as such, please do EVERYTHING in your
power to avoid 🦠 Sars-Cov-2 infection:
💉vaxx ➕😷 mask ➕strategic social-📏-distancing.
Kudos to teams at:
Osaka Metropolitan University Graduate School of Medicine,
Osaka, 🇯🇵 Japan,
for saving the life of this critically-ill patient. #openscience
Read 7 tweets
Nov 16
🆕: COVID-19🦠vaxx-💉-response in a cohort of
#immunocompromised children
organ-transplant; stem-cell transplant; rheum, +
- 2 vs 3 dose study
go.nature.com/3hERBn3 #serverless #openscience #scicomm #itrtg #iot #raredisease #datascience #immunology
A majority of the children mounted effective humoral repsonse following 2 doses; increase to near 100% following.
Caveat: these study authors recommend a 3-dose regimen in immunocompromised pediatric patients.
Kids do ⚠️NOT⚠️ have de-facto immunity to 🦠Sars-Cov-2
*⃣ especially immunocompromised kids *⃣
I have read recent case-reports of *fatal* COVID in kids with ▪️Primary Immunodeficiency, ▪️autoimmunity, ▪️rheumatic disease, ▪️cancers, ▪️sickle-cell, ▪️transplants, and more...
Read 6 tweets
Sep 14
▪️ High-profile man on Twitter tweets an article he had no part in writing - gets 100s of RTs & likes, and "thanks."
▪️ Woman who authored the paper after year(s) of hard work, tweets it and gets NO RTs, 1 like, and no "thanks."
F-CK that.
#womeninstem #academictwitter #scicomm
Misogyny and sexism are alive and well.
This is not a 'one-off.' I see it every day.
Man = hero.
Woman = almost zero.
Read 6 tweets
Sep 14
🆕: Severe, atypical, post-🦠- #COVID19
neurological🧠 sequelae
💉responsive to IVIg
…mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md… #serverless #womeninstem #openscience #scicomm #snrtg #LongCovid #neurology #immunology
🙏KUDOS and respect to this brave gentleman for consenting to the publication of this video and giving a glimpse into one of the many ways in which 🦠Sars-Cov-2 is affecting the🧠brains of those it infects.
#openscience #scicomm
Protect yourself from 🦠Sars-Cov-2,
please.
It's messing up 🧠 brains.
Read 4 tweets
Sep 12
🆕: ⚠️Not so mild 🦠#COVID19
in this immunosuppressed patient
- development of atypical, severe, acute 🧠 meningitis
ijidonline.com/article/S1201-… #bioinformatics #womeninstem #openscience #scicomm #snrtg #genomics #immunology Image
This patient could not have wound up in better hands:
National Institute of Infectious Diseases
“Lazzaro Spallanzani” IRCCS- Rome, 🇮🇹 Italy
👍 great job treating this patient,
sequencing and monitoring🧬the 🦠strain,
...and saving her life
#openscience #scicomm
I have found only a handful of reports in literature of
🦠Sars-Cov-2 induced🧠 meningitis. I thought there would be more. Caveat: it's exceedingly rare, but it does happen.
Read 4 tweets

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