@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 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
. 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 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
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
@Primary_Immune 4 years ago
CRIA syndrome🧬 -Always great to see a new genetic disorder in medical literature -Especially when it's immunological _News: https://www.wehi.edu.au/news/international-team-discovers-new-human-autoinflammatory-disease #serverless #rstats #SNRTG #autoimmune _Journal: https://www.nature.com/articles/s41586-019-1828-5 #BigData #IoT #sciComm #immunology #genomics #RareDisease https://t.co/Dxv2PiacGL
@Primary_Immune 4 years ago
The 9:1 gender imbalance in autoimmunity: A fascinating answer to an enduring medical mystery #SNRTG #DataScience #Scicomm #Meded #autoimmune #immunology #Lupus #genomics #RareDisease Article: https://eurekalert.org/pub_releases/2019-04/mm-u-dmh041819.php Journal: https://insight.jci.org/articles/view/127291 @umichmedicine @UMich https://t.co/NxIktw4sSm