Tomorrow it's #RareDiseaseDay 2023! 💡 Light up at 7 pm wherever you are to raise awareness for people living with a rare disease! 🏛️ Find a monument being lit up near you: cutt.ly/MPUWDKx 🏠 Find out how to light up your home: cutt.ly/zPlxnHb #LightUpForRare

Inborn errors in IRAK4/MYD88 are another cause of severe COVID. Just like TLR7 and type 1 IFN defects. More great work from covidhge.com Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia rupress.org/jem/article-ab…

Congratulations! Fantastic work!

Honored to be involved in this amazing study! Congrats @KFAVanDamme bart lambrecht team; Thank you for this great collaboration and dedicated work VIB UZ Gent UGent PID Research Lab Ghent

👶September is #NewbornScreeningAwarenessMonth; the ideal moment to highlight an important contribution of our #VIBGrandChallenges PID project! Thanks to the collective efforts, SCID was added to the list of soon-to-be-implemented conditions for neonatal screening in Flanders👏

Fascinating mechanistical insight into dsRNA-mediated basal level antiviral immunity in human neurons. Fully amazed if only because of our similar observation on TLR3-dependent basal level IFN-b antiviral immunity in human neurons DOI: 10.1172/JCI134529. science.org/doi/10.1126/sc…

Pivotal observation expanding the finding of MIS-C, not only related to SARS-CoV2 but also other HCoV driving TCR Vb21.3 expansion. Brilliant work by group of Belot Alexandre Casanova Lab Shen-Ying Zhang

Sad news for the PID community worldwide. Vicki was a passionate advocate for all PID patients and families. She was a good friend and she was an inspiration to all of us. Our deepest condolences to Fred, Vanessa and the whole JMF family.

Each day matters for babies with treatable rare diseases. Timely diagnosis and treatment can radically improve a child’s #health outcome and even save their lives. IPOPI President Martine Pergent says 👉 #NeonatalScreeningMatters #INSD

1/ We're seeking enthusiastic students & post-docs to join Shen-Ying Zhang's team in hgid.org to explore the human genetic and immunological basis of viral encephalitis, in a global cohort of patients with encephalitis due to herpesviruses, arboviruses and others.

A single gene mutation, common to 11 pediatric patients with either #SCID or #OmennSyndrome, could one day offer clinicians an early window to diagnose and treat these inborn errors of #Tcell development. Newcastle University scim.ag/787

Truly life changing for patients! Congratulations! NIAID News

Original Article: The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1 nej.md/4bXoKkG Science behind the Study: JAK Inhibition Immunotherapy for APS-1 nej.md/4cfs5Mv

Our new collaborative work out in Journal of Experimental Medicine, highlighting that defects of constitutive PTPN2 drive systemic autoimmunity from Evan’s syndrome to lupus, similar to inducible SOCS1 defects. JAK-STAT regulators are key to maintain immune tolerance. #monogenicSLE #IEI #JAKSTATopathies

1) Just out nature today! We show that human TMEFF1 is a restriction factor for #Herpes simplex virus 1(HSV1) in the brain, by limiting NECTIN1—HSV1-gD mediated HSV1 entry into cortical neurons. TMEFF1 defect can underlie HSV1 #encephalitis. nature.com/articles/s4158…

Monumental paper by Helen C. Su and collaborators, with profound biochemical, immunological, and clinical implications: Germline mutations in a G protein identify signaling cross-talk in T cells | Science science.org/doi/10.1126/sc…

1/ Excited to share our latest publication in PNASNews! We report two patients with autosomal recessive RelB deficiency. Check out the thread for key highlights from our study! 🧵👇doi.org/10.1073/pnas.2…

Today, we proudly celebrate the birthday of our Founder, Jeffrey Modell. To all the children & families living with #PrimaryImmunodeficiency around the globe, know that our mission is driven by our commitment to support, advocate, & seek cures for you. Happy Birthday, Jeffrey ❤️

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. hubs.la/Q038p-Gl0 #OpenAccess

Proud to add to the list of human inborn errors of immunity. Stuart Tangye Cecilia Poli