@Primary_Immune 1 year ago
🆕COVID-19 🦠in a large cohort of "Inborn Errors of Immunity" / Primary Immunodeficiency patients. - via NYC's Mount Sinai Medical Center 3% overall fatality-rate https://www.frontiersin.org/articles/10.3389/fimmu.2022.1035571/full #bioinformatics #scicomm #openscience #snrtg #datascience #iot #raredisease #immunology https://t.co/pq26puUWOM
@Primary_Immune 1 year ago
A 3 decade-plus medical mystery, apparently solved... https://medicalxpress.com/news/2022-05-genetic-sarin-nerve-gas-gulf.html #bioinformatics #snrtg #scicomm #datascience #openscience #genomics https://t.co/As6nKg4fAx
@Primary_Immune 2 years ago
🦠 Antibiotic-resistance is expected to claim 10 million lives a year by 2050 ...enter precision medicine... News: https://www.pnas.org/post/journal-club/personalized-medicine-makes-foray-into-fight-against-antibiotic-resistance #bioinformatics #WomenInSTEM #snrtg #scicomm #openscience Journal: https://www.science.org/doi/10.1126/science.abg9868 #immunology #machinelearning https://t.co/acNh748vSP
@Primary_Immune 2 years ago
There are almost 5⃣0⃣0⃣ "Inborn Errors of Immunity" in medical literature 🧬IL-10R deficiency is but one of them https://onlinelibrary.wiley.com/doi/10.1111/apt.16837 #bioinformatics #openscience #scicomm #snrtg #rstats #bigdata #immunology #genomics #raredisease https://t.co/DDEEEDfVNF
@Primary_Immune 2 years ago
Pediatric #COVID19 in Africa ...tragic data reflects global health and medical inequities https://www.umaryland.edu/news/archived-news/february-2022/african-children-dying-of-covid-19-at-higher-rates.php #WomenInSTEM #digitalhealth #bigdata #openscience #scicomm #itrtg #globalhealth https://t.co/FBCY7s2AHQ
@Primary_Immune 2 years ago
🧬There are nearly 5⃣0⃣0⃣ known "Inborn Errors of Immunity" in medical literature 'EXTL3-Deficiency' is but one of them https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03143-2 #bioinformatics #scicomm #itrtg #mednews #datascience #immunology #genomics #raredisease https://t.co/FmpmMYswvI
@Primary_Immune 2 years ago
🧬A newly-described 'Inborn Error of Immunity' / Primary Immunodeficiency enters medical literature "a novel disorder of dendritic cells & monocytes" https://www.jimmunol.org/content/207/10/2423 #bioinformatics #100daysofcode #bigdata #mednews #itrtg #openscience #immunology #genomics #raredisease https://t.co/yq9u6M0NjN
@Primary_Immune 2 years ago
A newly-described Primary Immunodeficiency / 'Inborn Error of Immunity' enters medical literature "a novel disorder of dendritic cells and monocytes" https://bit.ly/3wQy8mQ #bioinformatics #100daysofcode #bigdata #mednews #snrtg #openscience #immunology #genomics #raredisease https://t.co/Hhw82BROCN
@Primary_Immune 2 years ago
A "Bubble-Baby" diagnosed 🧬A novel causative mutation enters medical literature https://www.readcube.com/articles/10.3389/fped.2021.713924 #bioinformatics #bigdata #snrtg #mednews #openscience #immunology #genomics #raredisease https://t.co/2zElDdSRew
@Primary_Immune 2 years ago
On "the (continuing) potential of genomics to change the practice of Medicine" 🧬 https://www.cell.com/action/showPdf?pii=S0002-9297%2821%2900336-0 #bioinformatics #womeninSTEM #bigdata #scicomm #snrtg #openscience #genomics #raredisease https://t.co/SZLMTjwmtL
@Primary_Immune 2 years ago
#COVID19 in adult "hem-onc" patients: A big cohort study comprising 132 medical centers in 32 countries https://jhoonline.biomedcentral.com/articles/10.1186/s13045-021-01177-0 #python #bigdata #openscience #snrtg #scicomm #hematology #oncology #immunology https://t.co/BSVCmjAWTH
@Primary_Immune 2 years ago
🦠🧬 Always a pleasure to see #PrimaryImmunodeficiency/"IEI" research contributing to science & medicine ▪️ here, helping to elucidate fundamentals of anti-fungal immunity https://www.nature.com/articles/s41598-021-99838-0 #bioinformatics single cell #openscience #snrtg #scicomm #bigdata #immunology https://t.co/WuToTdNd2N
@Primary_Immune 2 years ago
It's not everyday that new antibodies (auto-ABs in this case) enter medical literature. - These 7 help to eluciate a rare #autoimmune syndrome https://www.sciencedirect.com/science/article/abs/pii/S1521661621002060 #bioinformatics single cell #openscience #itrtg #scicomm #bigdata #immunology https://t.co/xNEjaAXHBU
@Primary_Immune 2 years ago
Precision Medicine Dx and Rx in Infectious Diseases: - Single cell - transcriptomics - epigenomics - metabolomics - proteomics https://academic.oup.com/ofid/advance-article/doi/10.1093/ofid/ofab483/6375269 #bioinformatics #openscience #scicomm #itrtg #AI #machinelearning #immunology #genomics https://t.co/ZlJVQSUWEc
@Primary_Immune 2 years ago
🧬 A novel "Inborn Error of Immunity" enters medical literature ▪️ Its name is "X-AIDE” ➡️recurrent bacterial/viral infections + autoinflammation https://www.medrxiv.org/content/10.1101/2021.09.22.21263689v1.full.pdf #bioinformatics #itrtg #bigdata #openscience #scicomm #immunology #autoimmune #genomics #raredisease https://t.co/5ZZLpMXPer
@Primary_Immune 2 years ago
🧬1 of 2 novel "Inborn Errors of Immunity" / #PrimaryImmunodefiency disorders entering medical literature this week -primarily a B cell differentiation defect https://www.nature.com/articles/s41590-021-00951-z.epdf?sharing_token=iLNO9Fo3gZjKPjMK8Q5gbNRgN0jAjWel9jnR3ZoTv0PnbLFCRVKQB9UBNRkARV_VpfVVBs-o32EMKkUHNJkVnE3fWWdjtVJ7gzLCKnDhZZVeZLaiUWNeIXmBTTotlG0TFsmNGnaPd-tkV0li6PYdSfJOfNQi0gYmYitR0UzISK4%3D #bioinformatics #scicomm #openscience #meded #snrtg #bigdata #immunology #genomics #raredisease https://t.co/OHE9jpzz6f
@Primary_Immune 2 years ago
"In a study of 11 medical-mystery patients, an international team of researchers has discovered a new and unique form of amyotrophic lateral sclerosis pediatric-onset (ALS)" https://www.ninds.nih.gov/News-Events/News-and-Press-Releases/Press-Releases/Scientists-discover-new-genetic-form-ALS-children #bioinformatics #bigdata #itrtg #scicomm #openscience #genomics #raredisease https://t.co/TOqH4vXzuJ
@Primary_Immune 3 years ago
🧬 A newly-IDd genetic disorder enters medical literature - severe -> fatal - immunological/auto-inflammatory +microcephaly, dystrophy, liver dysfunction, and more https://www.medrxiv.org/content/10.1101/2021.03.08.21252805v1.full.pdf #bioinformatics #iot #rstats #datascience #snrtg #immunology #genomics #raredisease https://t.co/E3iBGLQGME
@Primary_Immune 3 years ago
🧬 Immuno-genomics and Precision-medicine in action ...ultra-rare diagnosis and successful treatment for a very sick infant https://www.jacionline.org/article/S0091-6749(21)00378-X/fulltext #bioinformatics #iot #snrtg #bigdata #immunology #PrecisionMedicine #genomics https://t.co/bwi1y6sAvM
@Primary_Immune 3 years ago
🧬 The power of immuno-genomics: A just-identified #PrimaryImmunodeficiency disorder enters medical literature https://www.biorxiv.org/content/10.1101/2021.02.22.432146v1.full.pdf #Bioinformatics #iot #datascience #bigdata #snrtg #technology #immunology #genomics #RareDisease https://t.co/zHRmXkY8sY
@Primary_Immune 3 years ago
. 🧬 A newly-identified Primary Immunodeficiency (+ autoimmune) disorder enters medical literature ...a sick infant diagnosed https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddab035/6124521?redirectedFrom=fulltext #100DaysOfCode #rstats #datascience #snrtg #PrimaryImmunodeficiency #bioinformatics #immunology #genomics #raredisease https://t.co/Baj7GQ7L7w
@Primary_Immune 3 years ago
Yet another "punch-to-the-gut" example of injustice, inequity, poorer outcomes, and institutional-wide racial disparities in Medicine and healthcare https://twitter.com/LancetChildAdol/status/1338628586769686528?ref_src=twsrc%5Etfw #linux #rstats #datascience #openscience #sepsis #healthcare
@Primary_Immune 3 years ago
🧬 A nice update on gene therapy '2.0' ...like the ring of "genes as medicines" :-) https://www.nature.com/articles/s41467-020-19507-0 #openscience #datascience #bigdata #rstats #technology #biotech #itrtg #genomics #raredisease https://t.co/EMUZn1AXBO
@Primary_Immune 3 years ago
A brand-new #PrimaryImmunodeficiency disorder enters medical literature *Phenotype: Natural Killer cells + CVID + autoimmunity https://bit.ly/3mORGBY #rstats #snrtg #autoimmune #datascience #scicomm #bioinformatics #immunology #genomics #raredisease https://t.co/WZCL8YqKHp
@Primary_Immune 3 years ago
🧬 The amazing marriage of #genomics & #immunology Almost 4⃣5⃣0⃣ distinct #PrimaryImmunodeficiency disorders described in medical literature...and counting https://www.sciencedirect.com/science/article/pii/S0021755720302187 #rstats #openscience #datascience #bioinformatics #technology #snrtg #raredisease https://t.co/g4gNSNO37B
@Primary_Immune 3 years ago
🧬 A never-before described #PrimaryImmunodeficiency causative mutation enters medical literature ...a magnificent walk-through of how it was accomplished https://www.karger.com/Article/Abstract/510062 #rstats #python #datascience #itrtg #immunology #genomics #bioinformatics #raredisease https://t.co/MBNdCxT5eL
@Primary_Immune 3 years ago
🧬 A never-before-seen #PrimaryImmunodeficiency mutation enters medical literature ...an elusive diagnosis for a sick Turkish girl https://link.springer.com/article/10.1007/s10875-020-00889-1 #openscience #technology #bigdata #bioinformatics #itrtg #immunology #genomics #raredisease https://t.co/xkuZBhmUtI
@Primary_Immune 3 years ago
Immunology matters Genomics matters Medical science Matters Rare Disease research matters LIFE MATTERS https://bit.ly/376ILqO #openscience #itrtg #scicomm #epilepsy #genomics #bioinformatics #DataScience #RareDisease #immunology https://t.co/eKZZijkPas
@Primary_Immune 3 years ago
🧬 A beautiful, recent genomic sequencing study in a "medically-complex" cohort of 138 pediatric patients - novel variants - ultra-rare DXs - 31% diagnostic yield (!) https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2770753 #snrtg #rstats #bioinformatics #openscience #datascience #genomics #raredisease https://t.co/x6ppeM7GRo
@Primary_Immune 3 years ago
A mysterious infectious disease leading to deadly swelling of the brain Now medical detectives have their pathogen _News: https://www.publichealth.columbia.edu/public-health-now/news/scientists-discover-bacterium-linked-deadly-childhood-disorder #openscience #rstats #datascience #itrtg _Journal: https://stm.sciencemag.org/content/12/563/eaba0565 #immunology #bioinformatics #genomics #raredisease https://t.co/2dG70igHwZ
@Primary_Immune 3 years ago
The 3⃣1⃣st case in medical literature of #COVID19/#SARSCoV2 in a patient with a #PrimaryImmunodeficiency disorder 15 year-old Spanish girl with "CTLA4" deficiency -survived https://link.springer.com/article/10.1007%2Fs00431-020-03793-3 #openscience #codingnewbie #rstats #bigdata #immunology #raredisease #openscience https://t.co/Mo4y3Ucb5B
@Primary_Immune 3 years ago
🧬 A beautiful example of the power of #Genomics... 1⃣ A child with a rare #autoimmune disorder finally gets the CORRECT diagnosis 2⃣ a novel mutation enters medical literature https://ard.bmj.com/content/annrheumdis/early/2020/08/30/annrheumdis-2020-218422.full.pdf #iot #openscience #snrtg #bigdata #immunology #bioinformatics #raredisease https://t.co/MvMmmmae8Q
@Primary_Immune 3 years ago
. Dysfunctional "natural-killer" cells ...as a newly-identified #PrimaryImmunodeficiency disorder enters medical literature https://www.jci.org/articles/view/134966/pdf #bioinformatics; single cell #technology #iot #genomics #snrtg #bigdata #immunology #raredisease https://t.co/efQi6TB7ZN
@Primary_Immune 3 years ago
. An elusive genomic diagnosis for two very sick kids ...as a newly-identified #PrimaryImmunodeficiency disorder enters medical literature https://rupress.org/jem/article/217/12/e20192275/152004/NCKAP1L-defects-lead-to-a-novel-syndrome-combining?searchresult=1 #iot #rstats #snrtg #autoimmune #technology #datascience #immunology #genomics #raredisease https://t.co/p4GG22aAMJ
@Primary_Immune 3 years ago
A new immuno-genomic variant enters medical literature... ...and life and death hanging in the balance for rare #PrimaryImmunodeficiency patients https://onlinelibrary.wiley.com/doi/abs/10.1111/petr.13808 #rstats #datascience #openscience #bigdata #immunology #genomics #raredisease https://t.co/U4by2LYNE4
@Primary_Immune 3 years ago
Just found the 2⃣4⃣th case in medical literature of a #PrimaryImmunodeficiency + #COVID19 patient happily shocked that this immunodeficient patient was asymptomatic https://www.researchsquare.com/article/rs-57542/v1 #iot #serverless #openscience #itrtg #rstats #datascience #immunology #raredisease https://t.co/wW8c4PeLrl
@Primary_Immune 3 years ago
. Pandemic-era, non-COVID-19 immunological research and discovery roll on... ...as the newest #PrimaryImmunodeficiency disorder enters medical literature https://rupress.org/jem/article/217/12/e20192275/152004/NCKAP1L-defects-lead-to-a-novel-syndrome-combining?searchresult=1 #serverless #WomenInSTEM #openscience #bigdata #iot #itrtg #immunology #genomics #raredisease https://t.co/8f2dy3SIRZ
@Primary_Immune 3 years ago
Decoding the rarest of rare immune disorders ...another #PrimaryImmunodeficiency disorder enters medical literature https://dm5migu4zj3pb.cloudfront.net/manuscripts/98000/98882/cache/98882.1-20200801134354-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf #openscience #WomenInSTEM #bigdata #DataScience #iot #snrtg #Immunology #genomics #raredisease https://t.co/s0BsroPerJ
@Primary_Immune 3 years ago
Some intriguing examples of a targeted, precision medicine approach in the treatment of #PrimaryImmunodeficiency disorders https://www.sciencedirect.com/science/article/abs/pii/S0889856120300217 #openscience #bigdata #WomenInSTEM #iot #itrtg #immunology #genomics #raredisease https://t.co/sfMfR8kr2u
@Primary_Immune 3 years ago
. "Med Ed" in Immunology The case for case-reports to enhance knowledge and curiosity in MDs and medical students 🧬especially cases of #RareDisease patients :-) https://www.frontiersin.org/articles/10.3389/fimmu.2020.01756/abstract #iot #itrtg #MedEd #openscience #bigdata #immunology #PrimaryImmunodeficiency #genomics https://t.co/mJnv7iAwxV
@Primary_Immune 3 years ago
there are ...more than 4⃣3⃣0⃣ distinct #PrimaryImmunodeficiency disorders in medical literature -most affect children ...a new case study brings a rare diagnosis https://assets.researchsquare.com/files/rs-33775/v1/f6ef90c9-9876-4db2-ba9a-6892c61df06e.pdf #iot #snrtg #WomenInSTEM #openscience #bigdata #technology #immunology #genomics #raredisease https://t.co/MecE6GWBLy
@Primary_Immune 3 years ago
Case number 12 of a #PrimaryImmunodeficiency patient infected with #COVID19 enters medical literature https://onlinelibrary.wiley.com/doi/full/10.1002/pbc.28382 #serverless #iot #itrtg #openscience #meded #WomenInStem #bigdata #immunology #SARS_CoV_2 #raredisease https://t.co/XOYN6uJWxn
@Primary_Immune 3 years ago
The 1⃣1⃣th case of a Primary Immunodeficiency patient with COVID-19 to enter medical literature - good news: recovered + discharged https://www.researchsquare.com/article/rs-28155/v1 #serverless #iot #rstats #meded #openscience #snrtg #bigdata #covid19 #immunology #PrimaryImmunodeficiency #RareDisease https://t.co/dsRCMJDXVI
@Primary_Immune 3 years ago
It's not every day that a newly-identified immune cell is described ...a viral respiratory-infection-fighter enters medical literature _News: https://www.sciencedaily.com/releases/2020/05/200508155915.htm #itrtg #openscience #rstats #virology #scicomm #bigdata _Journal: https://www.sciencedirect.com/science/article/pii/S1074761320301631 #immunology #genomics https://t.co/mipvH0TaUS
@Primary_Immune 3 years ago
The 8th #PrimaryImmunodeficiency patient infected with #COVID19 in medical literature - insightful clinical details ...heartening news - recovered + discharged https://www.annallergy.org/article/S1081-1206(20)30314-8/pdf #serverless #iot #bigdata #snrtg #meded #openscience #Covid_19 #immunology #CVID #RareDisease https://t.co/taKZX8uNEh
@Primary_Immune 3 years ago
A table summary of: -Dx and symptoms -Rx/Tx protocols -mortality vs survival of the 7 latest #PrimaryImmunodeficiency patients with COVID-19 in medical literature (from last article in tweet thread #iot #rstats #linux #bigdata #Covid_19 #covid19 #immunology #raredisease https://t.co/6elVJSYxeJ
@Primary_Immune 3 years ago
Thread UPDATE: 7 additional #PrimaryImmunodeficiency patients diagnosed with #COVID19 described in medical literature *The paper ➡️ https://www.sciencedirect.com/science/article/pii/S0091674920305571 #linux #technology #iot #rstats #COVID__19 #bigdata #immunology #CVID #raredisease https://t.co/fFyZQVqWOC
@Primary_Immune 3 years ago
A malady plaguing a single family for four generations ...a new genetic disorder enters medical literature _News: https://www.charite.de/en/service/press_reports/artikel/detail/cold_induced_urticarial_rash_researchers_discover_new_hereditary_disease/ #serverless #iot #openscience #technology #snrtg #bigdata _Journal: https://www.nature.com/articles/s41467-019-13984-8 #autoimmune #immunology #genomics #raredisease https://t.co/0QAOEpfpy4