🆕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
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
🧬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
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
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
🧬 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
🧬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
"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
Are Patient registries the missing link in rare disease research? Find out more here: https://bit.ly/MENA-PatientRegistries #RareDisease #Research #PatientRegistries #Magazine #Medicine #Treatment #Data #DataScience #Tech https://t.co/Ck3u9QirUq
🧬 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
🧬 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
🧬 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
🧬 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
🧬 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
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
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
🧬 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
. 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
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
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
. 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
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
. "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
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
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
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
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
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
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
EUREKA❗️ - always an occasion when never before identified immune-cells enter medical literature... _News: https://medicalxpress.com/news/2020-04-immune-cell-breast-ducts.html #rstats #linux #bigdata #snrtg #iot #scicomm _Journal: https://www.nature.com/articles/s41556-020-0505-0 #breastcancer #microscopy #immunology #genomics #RareDisease https://t.co/itB975CFwZ
A pretty good week for #PrimaryImmunodeficiency research - genomic science solves a decades-long medical mystery - a never before identified STAT1 mutation decoded https://www.frontiersin.org/articles/10.3389/fimmu.2020.00967/abstract #scicomm #iot #rstats #bigdata #genomics #immunology #raredisease https://t.co/7RFDy5m8lP
A new @CellCellPress Special Review issue on #Therapeutics: #Cancer, #autoimmune #disease, #vaccines, #RareDisease #MachineLearning and #medicine, #CRISPR #AAV, #pharma #neurodegeneration - its all @ http://bit.ly/2V9mLV1 https://t.co/TXz3prO4yu
Exised tonsils are generally treated as medical waste ...They could provide a new boon for immunological research 1⃣ https://healthcare-in-europe.com/en/news/using-tonsils-as-an-immune-testbed.html #serverless #iot #bigdata #snrtg #meded #scicomm 2⃣ https://thelancet.com/journals/ebiom/article/PIIS2352-3964(20)30059-1/fulltext #PrimaryImmunodeficiency #immunology #genomics #raredisease https://t.co/is4WPA2De9
Removed tonsils are generally treated as medical waste ...turns out they're a rich source of experimental immune cells _News https://healthcare-in-europe.com/en/news/using-tonsils-as-an-immune-testbed.html #serverless #iot #bigdata #snrtg #meded #scicomm _Journal https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(20)30059-1/fulltext #autoimmune #immunology #genomics #raredisease https://t.co/3Ewy4IlDzl
The "genomic autopsy" - a sad, though invaluable use of DNA science helps to solve a long-standing medical mystery _News: https://www.inquirer.com/health/amish-deaths-sudden-cardiac-arrest-genetic-20200123.html #serverless #iot #meded #snrtg #scicomm #technology #bigdata _Journal: https://jamanetwork.com/journals/jamacardiology/article-abstract/2758306 #cardiology #genomics #RareDisease https://t.co/ZEJqJiNxXP
A tragic medical mystery solved... -the power and transformational potential of the "genomic autopsy" demonstrated _News: https://edition.cnn.com/2020/01/16/health/amish-children-sudden-deaths-mystery-trnd/index.html #iot #bigdata #itrtg #technology #meded #scicomm _Journal: https://jamanetwork.com/journals/jamacardiology/article-abstract/2758306 #cardiology #genomics #RareDisease https://t.co/OC0oYgVNkT
Forget the term 'Big Data' when it comes to Medicine and healthcare... ...It's absolutely 'ENORMOUS Data,' and it's getting more so all of the time... https://www.nature.com/articles/s41591-019-0703-0.pdf #serverless #snrtg #iot #bigdata #meded #technology #scicomm #genomics #rarediseases #raredisease https://t.co/BJNCHi1nuH
