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sciencedirect.com/science/articl… “The overall carrier frequency in the Chinese population was 1.05 % (732/69,413) and the estimated incidence of DADA2 was approximately one in 92,251 individuals.”

1/ I am excited to share our new paper from Casanova Lab published today in Journal of Experimental Medicine about humans with autosomal dominant IFNAR1 deficiency (doi.org/10.1084/jem.20…).

What Happens When Some Cells Are More Dad Than Mom (and Vice Versa)? Latest from us. Published today. News here cuimc.columbia.edu/news/what-happ… article here: nature.com/articles/s4158… O'Jay Stewart BogunovicLab and a huge international team thank you 🙏🏼 Columbia Children's Health Lipschultz Precision Immunology Institute

The 2024 IUIS Inborn Errors of Immunity (IEI) Classification has arrived! Explore our latest insights now at iuis.org/committees/iei. Find the report under “Annual 2024 Report”!

‘Transcriptotype’ explains phenotypic variability of inborn errors of immunity bit.ly/40ykpSr

EULAR/ACR classification criteria for pediatric CNO sciencedirect.com/science/articl… #CRMO #CNO

medrxiv.org/content/10.110…

Journal of Human Immunity (JHI) Journal of Human Immunity is here! Read the inaugural editorial by Casanova Lab outlining #JHI’s vision as the destination for groundbreaking research in human immunity and inborn errors of immunity. doi.org/10.70962/jhi.2…

HAQ STING protects individuals from developing COPA syndrome, the 1st time a common allele is shown to prevent severe genetic disease. Simchoni et al. reveal functional differences among STING alleles that impact health. hubs.la/Q038C4-J0 chILD Foundation, American College of Rheumatology, American Thoracic Society (ATS)

NEW RESEARCH—Clinical manifestations, disease penetrance, and treatment in individuals with #SOCS1 (suppressor of cytokine signalling 1) insufficiency: a registry-based and population-based study bit.ly/3QKo0qx #RareDiseaseDay

NEW RESEARCH—Serum type I #interferon score as a disease activity biomarker in patients with diffuse cutaneous #SystemicSclerosis: a retrospective cohort study bit.ly/3Eh7Q5r

2024 EULAR Recommendations for the Management of Familial Mediterranean Fever (FMF) 1. **Complex Clinical Presentation** - FMF features a **complex genetic profile** and clinical manifestation. - Requires **expert diagnosis** and management. - **Level of

The first JHI articles are online! Poli et al present the 2024 update of the International Union of Immunological Societies classification of #InbornErrorsOfImmunity (hubs.la/Q03hwdHg0) & Bousfiha et al provide an accompanying phenotypic classification to assist clinical diagnoses (hubs.la/Q03hvT0f0)

🔔 JHI is delighted to share the Abstracts from the 2025 Clinical Immunology Society's (CIS) Annual Meeting: Immune Deficiency & Dysregulation, May 1-4 in Philadelphia and online! 🔗 Explore the Abstracts 👉 hubs.la/Q03k2VPF0 #ClinicalImmunology #CISMeeting

EULAR/ACR Risk Stratification Criteria for Development of Rheumatoid Arthritis in the Risk Stage of Arthralgia doi.org/10.1002/art.43… Published simultaneously in Annals of the Rheumatic Diseases

EULAR/ACR Classification Criteria for Pediatric Chronic Nonbacterial Osteomyelitis DOI link - doi.org/10.1002/art.43… Download the article - acr.tw/4iYiQmK Published simultaneously in Annals of the Rheumatic Diseases

📢📢Published today in Journal of Experimental Medicine! New human inborn error of immunity. A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis rupress.org/jem/article/22… CIHR University of British Columbia UBC Media Relations @genomebc Genome Canada Jeffrey Modell Foundation (JMF) Maryam Vaseghi-Shanjani

🚨 ERN ReCONNET - SLICC - SLEuro expert #consensus on the therapeutic management of RARE systemic #lupus erythematosus manifestations ⬇️ CHECK LINK: doi.org/10.1016/S2665-…

Super excited about our recent paper describing a high throughput screen for functional variants in the context of APDS. Rare disease ain’t always that rare! Great collaboration with Ben Izar and Dusan Bogunovic! cell.com/cell/abstract/…

Alioua, Rosain Jeremie Rosain Hôpital Necker AP-HP and colleagues describe seven intronic pathogenic variants underlying inborn errors of immunity. hubs.la/Q03xKk7M0 #InbornErrorsOfImmunity