A valuable contribution that expands our understanding of #CTLA4 biology and highlights the power of human genetics to uncover fundamental mechanisms of immune tolerance. #Immunology #InbornErrorsOfImmunity

This special collection, timed to coincide with #FOCIS2026 @FOCISimmunology, features recent and exciting advances in translational #immunology, including #InbornErrorsOfImmunity, #autoimmunity, #TumorImmunology, #immunotherapy, and #InfectiousDisease. 👉 hubs.la/Q04k9_n50

New collection in @JExpMed, timed to coincide w/ #FOCIS2026 @FOCISimmunology, features recent and exciting advances in translational #immunology, including #InbornErrorsOfImmunity, #autoimmunity, #TumorImmunology, #immunotherapy, and #InfectiousDisease. 👉 hubs.la/Q04k9W5S0

This multiple-case study from O’Connor @IQVIA_global, Lopez @RocketPharma et al. explores the burdens of illness, caregiving, and treatment for five families with children with severe leukocyte adhesion deficiency, type I (LAD-I). hubs.la/Q04k4DNt0 #InbornErrorsOfImmunity

Christine Karanja-Chege et al. @GertrudesHosp describe a rare case of gastrointestinal #tuberculosis in a severely immunosuppressed three-month-old infant presenting with intestinal obstruction in Kenya. hubs.la/Q04hx-jw0 #InbornErrorsofImmunity #IEIs

Using clinical vignettes, Melissa Gans et al. highlight the underlying mechanisms and potential treatments for immune dysregulation in #DownSyndrome. hubs.la/Q04fj5Wm0 #HowITreat #Autoimmunity #InbornErrorsOfImmunity @bogunoviclab

Lauren M. Gunderman, Eric J. Allenspach et al. share the second report of X-linked SEPTIN6-related disease in two brothers identified by #SCID newborn screening. hubs.la/Q04fhWfk0 #Septins #IEI #InbornErrorsofImmunity #ClinicalPhenotypes #Bcells

Hennings, Ekwall et al. integrated spatial transcriptomic and proteomic analyses of #thymus tissue from patients with 22q11.2 deletion syndrome to identify fibroblast-driven collagen expansion and alterations in medullary niches. hubs.la/Q04fj6HY0 #InbornErrorsOfImmunity

🧬 Persistent vaccine-strain rubella granulomas are a rare but serious complication in some inborn errors of immunity. In a Pediatric Dermatology case report, a patient with ataxia-telangiectasia developed chronic ulcerated cutaneous granulomas linked to rubella vaccine strain persistence. Doxycycline plus hydroxychloroquine led to partial ulcer healing within 4 weeks, enabling surgical excision and durable local lesion control - although it did not eradicate the virus. Clinical takeaway: for immunodeficient patients with chronic granulomatous ulcers, etiology matters. This case highlights a pragmatic bridge strategy: anti-granulomatous therapy may convert highly morbid, nonhealing lesions into surgically manageable disease. But this is a single case, not a generalizable treatment standard. Source: onlinelibrary.wiley.com/doi/… #Immunology #PediatricDermatology #InbornErrorsOfImmunity #Dermatology #MedTwitter

New study from Bhattad, Singh, et al. analyzes the records of five Activated phosphoinositide 3-kinase δ syndrome 1 (APDS1) patients, representing the first case series of APDS1 from the Indian subcontinent. hubs.la/Q04d0MKR0 #InbornErrorsOfImmunity

How I treat: Jennifer W. Leiding, Michael D. Keller and colleagues present their practical guide to diagnosis and treatment of chronic granulomatous disease, including the first comprehensive clinical protocol for treatment of CGD. hubs.la/Q04clwT00 #InbornErrorsOfImmunity

Children with Inborn errors of immunity constitute a psychosocially vulnerable population. Routine #psychosocial screening and integrated #MentalHealth support are essential for comprehensive care and improved #QualityofLife. Learn more, here 🔗 doi.org/10.1111/pai.70318 . #Inbornerrorsofimmunity #IEI #pai_journal #originalarticle #routinepsychosocial #mentalhealthsupport #QoL

Perspective: Garcia-Solis, Pérez de Diego, and Sánchez-Ramón @SaludMadrid examine genetic testing advances in #InbornErrorsOfImmunity, highlighting challenges in variant interpretation and the need for standardized approaches. hubs.la/Q047LwW90 @ESIDsociety

A simple flow cytometry test can distinguish STAT3 variant types A functional assay measuring IL‑10–mediated, STAT3‑dependent inhibition of #TNFα in #monocytes successfully differentiated STAT3‑DN, #GOF, and #HI variants, with #ROC‑AUC values up to 1.0 — showing excellent #sensitivity and #specificity. Takeaway: A fast, reliable tool for functional STAT3 assessment in research and clinical labs. Take a peek at this 🔗 doi.org/10.1111/pai.70300 . #InbornErrorsOfImmunity #STAT3 #FlowCytometry #PAI_Journal #IL10 #originalarticle

Andersen, Assing, Mogensen et al. @AarhusUni describe a patient with #asthma, pulmonary #aspergillosis, and elevated IgE homozygous for a deleterious variant in the oncostatin M receptor. hubs.la/Q045pySt0 #InbornErrorsOfImmunity #immunodeficiencies #InfectiousDiseases

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. hubs.la/Q043_cfq0 #SCID #PrimaryImmunodeficiency #InbornErrorsOfImmunity #HSCT

Adolescents with #InbornErrorsOfImmunity face school hurdles. Lopez-Seguer, Riviere, Soler-Palacin et al. @vallhebron call for co-developed, teacher-facing protocols with authorities and patient groups. hubs.la/Q043nw430 #IEI #RareDisease #Peds #Education @ESIDsociety

Machine Learning to Predict Inborn Errors of Immunity (IEI) 🧬🤖 A study of 677 children with very low #IgE (<2.5 IU/mL) used #MachineLearning models to identify those at risk for #IEI. 🔍 Top performer: Random Forest (AUROC 0.86) 📈 Key predictors: lymphocytes, neutrophils, platelets, mean platelet volume, CRP 🩺Why it matters: Simple, routine #LabData can help flag children who may need #EarlyImmunology evaluation. 📌 Takeaway: A promising data-driven tool for early IEI detection, awaiting prospective validation. . 🔗 doi.org/10.1111/pai.70285 #pai_journal #originalarticle #InbornErrorsofImmunity #AUROC #lymphocytes #neutrophils #platelets #meanplateletvolume #CRP

2️⃣ Yamashita et al. present a questionnaire-based study that provides insights into the current healthcare infrastructure used to diagnose & manage #InbornErrorsOfImmunity across countries and regions involved in @APSID_PID 👉 rupress.org/jhi/article/1/2/…

5️⃣ #InbornErrorsOfImmunity affecting the MHC class I pathway for antigen presentation. A review from Stephan Gadola, Hans-Gustaf Ljunggren and colleagues 👉 rupress.org/jhi/article/1/2/…