Latest posts tagged with #SCID on Bluesky
Unmanipulated bone marrow infusion without conditioning can rescue RECQL4-/- severe combined immunodeficiency. New study from Alexandra Grier and colleagues @chopresearch.bsky.social: rupress.org/jhi/article/...
#ClinicalPhenotypes #immunodeficiencies #InbornErrorsOfImmunity #SCID #HSCT
Grier et al. @childrensphila.bsky.social report that mutations in DNA helicase RECQL4 can cause immunodeficiency, including #SCID. The T cell defects are intrinsic to the hematopoietic system and amenable to hematopoietic stem cell transplant. rupress.org/jhi/article/...
@romberglab.bsky.social
In @jhumimmunity.org, Grier et al. @childrensphila.bsky.social report that mutations in DNA helicase RECQL4 can cause immunodeficiency, including #SCID. The T cell defects are intrinsic to the hematopoietic system and amenable to hematopoietic stem cell transplant. rupress.org/jhi/article/...
Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C. New study from Anna Lyytikäinen, Pegah Johansson and colleagues (Sahlgrenska University Hospital): rupress.org/jhi/article/...
#SCID #CellDivisionAssay #FlowCytometry #DNARepair #DSB #NHEJ
In @jhumimmunity.org, Lyytikäinen, Johansson et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky severe combined immunodeficiencies (#SCID). rupress.org/jhi/article/...
#SCID #PrimaryImmunodeficiency #InbornErrorsOfImmunity
Lyytikäinen, Johansson et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky severe combined immunodeficiencies (#SCID). rupress.org/jhi/article/...
#SCID #PrimaryImmunodeficiency #InbornErrorsOfImmunity #HSCT #ClinicalImmunology
Managing non-SCID T cell lymphopenia after TREC-based #NewbornScreening. New study from Annelotte J. Duintjer, Maartje Blom @unileiden.bsky.social and colleagues: rupress.org/jhi/article/...
#TCellDeficiencies #Diagnostics; #SevereImmunodeficiencies #SCID
@esidsociety.bsky.social
In @jhumimmunity.org, Duintjer, Blom et al. @unileiden.bsky.social present clinical follow-up data of 6.5 years of #NewbornScreening for #SCID, underscoring the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up. rupress.org/jhi/article/...
#Immunodeficiencies
Duintjer, Blom et al. @unileiden.bsky.social present clinical follow-up data of 6.5 years of #NewbornScreening for #SCID, underscoring the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up. rupress.org/jhi/article/...
#Diagnostics #Immunodeficiencies
Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency: A PIDTC study. From Virdette L. Brumm @ucsfchildrens.bsky.social, Ami J. Shah @stanfordmedicine.bsky.social and colleagues: rupress.org/jhi/article/...
#SCID
Brumm, Shah et al. evaluated 69 subjects with #SCID to assess the neurodevelopmental outcomes following HCT. Compared with the normative population, our subjects performed in the average range. There was no impact of newborn screening, conditioning, or genotype. rupress.org/jhi/article/...
In @jhumimmunity.org, Brumm et al evaluated 69 subjects w/ #SCID to assess the neurodevelopmental outcomes following HCT. Compared w/ the normative population, our subjects performed in the average range. There was no impact of newborn screening, conditioning, or genotype rupress.org/jhi/article/...
This research reports promising preclinical data showing that autologous HSCs + IL2RG gene therapy may offer an effective route to treating X-linked SCID.
#GeneTherapy #StemCells #SCID #Immunology #RegenerativeMedicine
www.sciencedirect.com/science/arti...
Learn the key differences between B-cell and T-cell immunodeficiencies, their causes, and clinical features to master immunology for exams and practice. #Immunodeficiency #BCellDisorders #TCellDisorders #Immunology #MedicalEducation #USMLE #Pathology #SCID #DiGeorgeSyndrome #ClinicalImmunology
Master the fundamentals of T-cell immunodeficiencies — understand their pathophysiology, infections associated, and clinical relevance for diagnostic and therapeutic insight.
#TCellDisorders #Immunology #SCID #DiGeorgeSyndrome #USMLE
📣 New Podcast! "The Boy in the BUBBLE: A Story of LIES, Anger, and SCID" on @Spreaker #bioethics #bubbleboy #cautionarytale #conspiracy #darkhistory #davidvetter #hiddentruth #humanexperiment #investigativejournalism #isolation #mediahoax #medicalethics #medicalexperiment #medicalhistory #scid
🌍 The RECOMB 2025 report shares progress on an innovative gene therapy for RAG1-SCID, a rare & severe immunodeficiency.
Using corrected stem cells, researchers across Europe are opening new hope beyond transplants.
Read it here: www.recomb.eu/2025/09/26/f...
#GeneTherapy #RareDiseases #SCID
A 10 year old celebrating with a hose
10 year old footballer trick shot
This is actually a mocktail. But he does love a pornstar martini….
We made a #SCID kid 10 year old, @bubblefoundation.bsky.social !!!
Please consider donating blood at any point so that children like Sam can reach a WHOLE DECADE… *lies down, slightly weeping w exhaustion*
🧬 Born With Zero Immunity
Subscribe to read more on www.pouringpotions.com
#SCID #SevereCombinedImmunodeficiency #BubbleBoy #NoImmunity #GeneticDisorder #RareDisease #PediatricHealth #BoneMarrowTransplant #GeneTherapy #ImmuneDeficiency #MedicalAwareness #ChildHealthMatters
Visualization of transgenic HSC niche in vivo correlates with persistence of lentiviral progeny in circulation. #HSCEngraftment #GeneTherapy #SCID
CraifがCure SMA 2025で発表した新型スクリーニング技術の革新性 #東京都 #文京区 #Craif #SMA #SCID
Craif株式会社が発表した超迅速デュアルスクリーニングツールの研究成果が注目を集めています。新生児に優しい迅速な検査法が期待されます。
The next speaker is Karin Pike-Overzet from #LUMC who will be talking about a clinical trial for RAG1-SCID patients using hematopoietic stem-cell therapy combined with lentiviral therapy. #SCID #NVGCT2025 #clinicaltrial #RAG1
As we observe World PI Week 2025, we are pleased to see IPOPI's Executive Director, @johanprevot.bsky.social, featured in an article by rare disease advocate Tom Larmondra.
📖 Read the full article: linkedin.com/posts/tomlar...
#WorldPIWeek #NewbornScreening #SCID #IPOPI #Screen4Rare
This post is directed to my followers and others with #PrimaryImmunodeficiency
#CVID #PI #SCID
#IgADef #zebras
The IDF (Immunodeficiency Foundation) gave a presentation on The Impact of Federal policy changes on the PI community.
Please repost and let me know other # s to use!
New ADA SCID article
Multi-Year Registry Study of Elapegademase Treatment in Patients With ADA-SCID
bit.ly/3FOHKYb
To view a Plain Language Summary of the article, Download the PDF here and scroll to page 7.
bit.ly/3R1f7sX
#SCID #ADASCID #SCIDFoundation
In May 2024, Sophie Hambleton & colleagues reported the existence of 11 patients with #SCID or #OS who had a single homozygous deleterious missense variant of gene NUDCD3. This work suggests NUDCD3 may be an important cochaperone in #RAG2 -mediated egress of #RAG1 from the nucleoli!
Our clinical experience using ex vivo T-lymphopoiesis assays to assist clinical decision-making between #HCT for #SCID & #thymus transplantation for #athymia in genetically undefined T-lymphocytopaenia is published 👉 doi.org/10.1016/j.cl...
Thank you to all collaborators and referring clinicians!
An abnormal SCID result on a newborn screen means your baby may have low T cells, which are vital for fighting infections. While most babies with an abnormal result do not have SCID, it’s essential to follow up immediately - Visit scidfoundation.org to learn more
#SCID #scidfoundation
Behold a screenshot of #SCID on a FHD vertical monitor.
There 5 databases open with "tree" and "best tree games" windows.
There are also 5 engines running simultaneously.
SCID rocks 🚀
#Chess #CorrespondenceChess
