Top Tweets for #InbornErrors
EA4HP Webinar Coming up! Haematopathology of Inborn Errors of Immunity 15 April 2026 at 5 PM CET Register now https://t.co/KfyG7zLZQC
#pathology #ea4hp #pathologywebinar #lymphomawebinar #inbornerrors #immunityerrors
1/
๐งฌ Etiology:
AR mutation in GLB1 gene โ โ ฮฒ-galactosidase โ accumulation of GM1 gangliosides in neurons + viscera.
Incidence: ~1 in 100,000โ200,000 live births.
๐ฃ Results in cellular toxicity, neurodegeneration & multisystemic manifestations.
#InbornErrors
You may have a look at this #clinicalletter โNewborn screening for inborn errors of #immunity in #Brazilโ published in the #PAI_Journal.
Here: ๐ https://t.co/vc6CPN0dYh
.
#newbornscreening #inbornerrors
๐งฌ Inherited Metabolic Disorder? The eyes have it! ๐
Fab paper on IMD and the eyes
Looking to know more about what happens when Dr @DGlaucomflecken has to stop ignoring the Clinical Geneticist in the corner? Read on ๐ https://t.co/dgOM2TWgpm
#eyes #ophthalmology #inbornerrors
Dive into the latest research and clinical advancements presented at the Inborn Errors Working Party Annual Conference in the ๐ Event Report โฌ๏ธ
https://t.co/njEcXa9Xfl
@_IEWP #HCT #CellularTherapies #haematology #InbornErrors #PatientOutcomes
Starting off the second plenary at #ESID2024 with Lori Broderick, diving into Gain-of-Function Mutations in STAT4: Beyond Skin Deep. Fascinating insights into how these mutations impact immune function! #InbornErrors #Immunology
Have you heard about the #openaccess #clinicalletter โUse of #dupilumab for #atopic #dermatitis in pediatric and young adult patients with #InbornErrors of #immunityโ in the #PAI_Journal?
You can have a look here: ๐ https://t.co/xlgZCs0R3W
#atopicdermatitis #biologics
Goa Health Ministry prioritizes newborn care at GMC with a state-of-the-art NICU and free screening for Inborn Errors of Metabolism. Setting new standards in neonatal care!
#TheGoaModel #NeonatalCare #GMC #NewbornHealth #InbornErrors #EarlyDetection #Healthcare #GoaHealth #Goa
Excited to be speaking at #ESID2024 with @DrCindyMa & Prof. Jolles. Join the #ESID community dedicated to improving the lives of patients with #immunodeficiencies and #inbornerrors. Submit your #PID research by 7 May. #immunity #genetics #ingid #ipopi https://t.co/hjQ6tPUsnk
Excited to announce Iโm speaking at #ESID2024! Join the #ESID community dedicated to improving the lives of patients with #immunodeficiencies and #inbornerrors. Submit your #PID research by 7 May. #immunity #genetics #ingid #ipopi https://t.co/DBvVHd3l5f
For #WorldPIWeek, recap the latest developments in #InbornErrors research in our Review Series โจ
6 reviews cover insights into IEI from 'The Goldilocks Effect': variants in genes that result in loss or gain of function ๐งฌ
Read for free ๐https://t.co/Xj588iKHbl
Check out the #ESID2024 preliminary programme! Renowned experts will discuss diagnostics, genetics, and clinical management of #inbornerrors of #immunity. Submit your research by May 7. Don't miss out! #immunodeficiencies #primaryimmunodeficiencies https://t.co/EHD0GEZlsk
Are you researching applications of #immunotherapy for #InbornErrors of immunity?
๐ฉ @IMTadvances invites papers on genetics-guided application of novel therapeutics & their mechanism in treating patients with #PrimaryImmunodeficiency
#CallForPapers ๐https://t.co/Qct0cmfnLy
Dear readers! One year after the Special Issue about "Inborn Errors of #Immunity".
Take a look using the link ๐ https://t.co/wgKbBgyEBl
.
#PAI_journal #inborn #inbornerrors
Curious about PKU, and why Phe lowering is so important in this rare metabolic disease? In this brief clip (2 mins), Dr. Hope Northrup, medical geneticist and expert in #inbornerrors, explains: https://t.co/MhC4w54un7 #SYBX $SYBX #rarediseases #drugdevelopment
Curious about PKU, and why Phe lowering is so important in this rare metabolic disease? In this brief clip (2 mins), Dr. Hope Northrup, medical geneticist and expert in #inbornerrors, explains: https://t.co/MhC4w54un7 #SYBX $SYBX #rarediseases #drugdevelopment
๐LIVE ESID WEBINAR NEXT WEEK - Juniors Clinical Cases!!!
Join us for this year's final Juniors Clinical Cases webinar session on 21 December (16:00 CET).
Register here ๐
https://t.co/ajeik6NUvv
#PIDD #inbornerrors #lymphoproliferation
We're delighted to be sponsoring the #BSI23 plenary on human genetic variation & variability of #vaccine responses ๐
To explore more about #InbornErrors of #immunity & their effects on infectious disease & beyond, read our latest #IEI Review Series โก๏ธhttps://t.co/Xj588iKHbl
Calling #BSICIPN23 attendees! Submit your latest research on #immunotherapies for #InbornErrors of immunity ๐งฌ
Our upcoming collection will explore the identification of immune pathways & novel therapeutics to provide targeted treatment for #IEI๐https://t.co/SoYDY9XMPn
3 weeks until #BSICIPN23 starts!
@BSI_CIPN's exciting plenary topics include:
๐ฅ๏ธ Computational approaches for early #IEI diagnosis
๐งฌ Single-cell RNA sequencing
๐ฆ Antiviral immunity in the context of #InbornErrors
View the programme & register ๐https://t.co/XnR4v8ZsbQ
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