@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 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
🧬 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
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
🧬 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
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
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
@Primary_Immune 4 years ago
The very first Primary Immunodeficiency causative mutation of 2020 (and the new decade) enters medical literature - "CARD11" mutation implicated in 'BENTA' disorder https://link.springer.com/article/10.1007/s10875-019-00729-x #serverless #technology #iot #bigdata #snrtg #rstats #Meded #genomics #RareDisease https://t.co/HykfIUbqcy
@Primary_Immune 4 years ago
A brand new #PrimaryImmunodeficiency disorder enters medical literature -At least 15 new "PI" disorders IDd in 2019 thus far >350 PI disorders IDd overall https://www.sciencedirect.com/science/article/abs/pii/S0091674919313223#undfig1 #MedEd #OpenScience #SNRTG #SciComm #technology #immunology #genomics #RareDisease #BigData #IoT https://t.co/h5eNZqGbZ8
@Primary_Immune 4 years ago
A new #PrimaryImmunodeficiency disorder enters medical literature -brings new insight into cell metabolism & inflammatory processes #MedEd #immunology News: https://www.sciencedaily.com/releases/2019/09/190916114022.htm #SciComm #technology #SNRTG -Journal: https://www.nature.com/articles/s41590-019-0482-2 #genomics #RareDisease #BigData #IoT https://t.co/SXYM7tmlsQ
@Primary_Immune 5 years ago
It's Not Everyday That a Brand New #RareDisease Enters Medical Literature https://elifesciences.org/articles/32451 #SciComm #ITRTG #BigData #DataScience #IoT #innovation #technology #SNRTG #MedEd #brain #genetics #epilepsy #neuroscience #genomics https://t.co/fisuGUtWne