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...

U01.02.033 Immunodeficiencies B- & T- cell disorders  Explore the causes, classifications, and clinical features of primary and secondary immunodeficiencies focusing on B-cell and T-cell disorders. Learn how defects in humoral and cellular immunity lead to increased susceptibility to infections, autoimmune diseases, and malignancies.

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

U01.02.032 Immunodeficiencies T-cell disorders Analyze the clinical scenario step-by-step. Identify the patient’s age, types of infections (viral, fungal), associated features (hypocalcemia, congenital heart defects, facial anomalies), and lab findings (low T-cell count, low PTH). Use these key clues to connect the presentation to a developmental defect involving the pharyngeal pouches and determine the most likely underlying genetic abnormality.

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

The Boy in the BUBBLE: A Story of LIES, Anger, and SCID You remember the story of the smiling "Bubble Boy," the brave medical marvel who captivated the world? Forget everything you think you know. That boy was a media creation, and the truth is so much darker. This is the real story of David Vetter, the boy who lived his entire life inside a sterile plastic bubble due to Severe Combined Immunodeficiency (SCID). While the world saw a happy child, we uncover the heartbreaking reality of his isolation, his hidden anger, and the profound emotional turmoil his psychologist later revealed. Was this a groundbreaking medical achievement or a cruel medical experiment that went too far? We peel back the layers of a story that became a national sensation, exploring the massive ethical dilemmas that haunted his doctors. We'll delve into the sanitized media portrayal that some now call a deliberate media hoax, contrasting it with the devastating accounts of a boy desperate for human contact. This case became a cautionary tale about the cost of medical hubris, culminating in a fatal bone marrow transplant that was supposed to be his escape. And for those who think the story couldn't get any stranger, we'll investigate the most extreme theory of all: the shocking claim that the entire Bubble Boy story was a sophisticated hoax orchestrated for financial gain. This is more than just medical history; it’s a gripping story of good intentions, devastating consequences, and the lies we tell ourselves in the name of science. Was David Vetter a pioneer, a prisoner, or a pawn in a larger game? Subscribe now to step inside the bubble and uncover the heartbreaking truth that was hidden in plain sight.

📣 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 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。

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

Living well with PI: Impact of federal policy changes on the PI community | Immune Deficiency Foundation This panel discussion features Immune Deficiency Foundation CEO Jorey Berry, as well as Chief Public Policy Officer Lynn Albizo, Community Resource Navigator Angie Kotarski, and Jodi Taub, owner of Jo...

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

NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome Developing T and B cells show a conserved requirement for NUDCD3 to support recombinase-mediated shuffling of antigen receptor genes.

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

Strimvelis, la terapia génica desechada por la industria farmacéutica que ha salvado a Aitana Una ‘niña burbuja’ de Córdoba se cura de la enfermedad gracias a un tratamiento innovador rescatado por una fundación italiana cuando iba a desaparecer por su escasa rentabilidad

elpais.com/sociedad/202... #SCID #PID

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