#interferonopathy
September 27, 2026 at 6:09 PM
Nouvelle publication au Limos : 'Dysregulated dsRNA sensor signaling and viral infection during onset of pediatric autoimmune interferonopathy' - https://hal.science/hal-05762907v1
September 25, 2026 at 10:30 PM
And surprise!! we found three deleterious heterozygous mutants of the AZI2 gene (which encodes the NAP1 protein) in three patients suffering from lupus or a severe interferonopathy (a disease linked to the uncontrolled production of type-1 interferon).
September 7, 2026 at 7:52 AM
New JIMD Reports Shortcast with Dr. Dan Brooks & Dr. Fernando Scaglia exploring a PNPT1-related #mitochondrialdisease case and the therapeutic potential of JAK inhibition. bit.ly/463Nver
Shortcast: JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy
JIMD Podcasts · Episode
bit.ly
September 4, 2026 at 7:34 PM
New JIMD Reports Shortcast 🎧
Dan Ross Brooks & Fernando Scaglia discuss PNPT1-related mitochondrial disease, type I interferon activation and the potential of JAK inhibition with tofacitinib.
Listen: soundcloud.com/user-1090061...
#mitomedicine #interferonopathy
August 31, 2026 at 9:24 AM
The VA sent my Rinvoq today (with 5 months of refills!)

This is the confirmation that the US VA agrees with the description of my case and symptoms after review—ultimately they agree that I have an interferonopathy & mitochondrial dysfunction, the cause of my me/cfs! (Due to SAMHD1 Het A565T)
August 29, 2026 at 7:51 PM
RRIDs were included in this in Journal of Experimental Medicine paper. RRIDs improve reproducibility in scientific research. #BetterScience #accelerateopenscience #STMpublishing
Familial Pulmonary Alveolar Proteinosis and Type-I Interferonopathy by Mutation of STAT2 (TIMS2)
Read the full paper: Familial Pulmonary Alveolar Proteinosis and Type-I Interferonopathy by Mutation of STAT2 (TIMS2)
doi.org
August 15, 2026 at 7:01 AM
Online now: Köhlmeier-Degos disease is an interferonopathy characterized by type I and II interferon-driven inflammatory vasculopathy
Köhlmeier-Degos disease is an interferonopathy characterized by type I and II interferon-driven inflammatory vasculopathy
Cudrici et al. examine inflammatory vascular injury in Köhlmeier-Degos disease. Single-cell profiling of skin, blood, and cerebrospinal fluid reveals type I and II interferon activation and cytotoxic T cell involvement, while ruxolitinib treatment in one patient is associated with suppression of interferon programs.
dlvr.it
August 4, 2026 at 7:19 PM
@proteintech.bsky.social's resource, RRID:AB_2118685, was just reported to be used in the paper. RRIDs improve reproducibility in scientific research. #RRID #reproducibility #ReproducibleResearch
Köhlmeier-Degos disease is an interferonopathy characterized by type I and II interferon-driven inflammatory vasculopathy
Read the full paper: Köhlmeier-Degos disease is an interferonopathy characterized by type I and II interferon-driven inflammatory vasculopathy
doi.org
August 2, 2026 at 7:01 AM
New content is available in our journal-based #CME activities: 📄 “Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)” from Gruber et al. @bogunoviclab.bsky.social doi.org/10.1084/jem....

Begin the activity 👉 mskcc.cloud-cme.com/course/cours...
July 30, 2026 at 7:45 PM
Köhlmeier-Degos disease is an interferonopathy characterized by type I and II interferon-driven inflammatory vasculopathy @cp-cellrepmed.bsky.social
www.cell.com/cell-reports...
July 30, 2026 at 7:44 PM
Familial pulmonary alveolar proteinosis and type I #interferonopathy by mutation of #STAT2 (TIMS2). New study from Conor Gruber, Dusan Bogunovic @bogunoviclab.bsky.social @columbiamed.bsky.social and colleagues: rupress.org/jem/article/...

#HumanDiseaseGenetics #Immunodeficiency #InnateImmunity
July 23, 2026 at 1:15 PM
JEM is pleased to present opportunities to engage in #CME @MSKCME. The latest activity is now available 👉 mskcc.cloud-cme.com/course/cours...

📄 New content: “Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)” (Gruber et al. doi.org/10.1084/jem....)
July 22, 2026 at 3:30 PM
✍️💻 Our latest #CME activity @mskcme.bsky.social is now available!
New content 📄: “Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)” (Gruber et al. doi.org/10.1084/jem....)

Begin the CME here 👉 mskcc.cloud-cme.com/course/cours...
July 16, 2026 at 3:00 PM
Dr. Ivanov is running the mutations in-vivo to confirm my SAMHD1 observations in his wetlab! And if that goes well, he already has collaborators/coauthors that would want to do studies!

It was amazing meeting Dr. Ivanov!😃🥳🥳

#samhd1 #mecfs #longcovid #interferonopathy #neisvoid
July 1, 2026 at 6:26 PM
@biorxivpreprint.bsky.social Dysregulated dsRNA sensor signaling and viral infection during onset of pediatric autoimmune interferonopathy
www.biorxiv.org/content/10.6...
May 29, 2026 at 5:56 PM
Dysregulated dsRNA sensor signaling and viral infection during onset of pediatric autoimmune interferonopathy https://www.biorxiv.org/content/10.64898/2026.05.27.728148v1
May 29, 2026 at 8:16 AM
Dysregulated dsRNA sensor signaling and viral infection during onset of pediatric autoimmune interferonopathy https://www.biorxiv.org/content/10.64898/2026.05.27.728148v1
May 29, 2026 at 8:16 AM
Parvaneh et al. study patients with STAT2 p.R148Q variant, who present with life-threatening #neuroinflammation, respiratory failure, & high mortality rate. Early genetic recognition & treatment with high-dose JAK inhibitors may improve outcomes in this #interferonopathy. rupress.org/jhi/article/...
May 27, 2026 at 5:30 PM
Parvaneh et al. study patients with STAT2 p.R148Q variant, who present with life-threatening #neuroinflammation, respiratory failure, & high mortality rate. Early genetic recognition & treatment with high-dose JAK inhibitors may improve outcomes in this #interferonopathy. rupress.org/jhi/article/...
May 27, 2026 at 4:01 PM
The SAMHD1 / cGAS–STING / NLRP3 interferonopathy story is real and replicated; my family just happens to sit at a particular threshold of that system.

So this is an n=1 family mechanistic pilot designed to generate hypotheses for a subset of ME/CFS, Long Covid, and diet‑resistant metabolic syndrome
May 2, 2026 at 12:47 AM
✨April Issue✨| COPA syndrome spans multiple organs but is defined by STING in the lung

This News & Views article discusses the findings from a large European COPA syndrome cohort

bit.ly/40J4OyB

#Rheumsky #Medsky
COPA syndrome spans multiple organs but is defined by STING in the lung - Nature Reviews Rheumatology
A large European cohort clarifies COPA syndrome as a multi-organ interferonopathy defined by STING-driven interstitial lung disease (ILD). These findings refine diagnosis and treatment and establish C...
bit.ly
March 27, 2026 at 3:13 PM
☕Betrancourt, Cinko et al. identify ANKIB1-mediated K11 ubiquitination and OPTN recruitment as a shared mechanism for driving immune signalling by cGAS, TLR3 and TLR4, with functional relevance in interferonopathy and herpes simplex virus-1 protection.
bit.ly/4uRjZnc
Lysine-11 ubiquitination drives type-I/III interferon induction by cGAS–STING and Toll-like receptors 3 and 4 - Nature Cell Biology
Betrancourt, Cinko et al. identify ANKIB1-mediated K11 ubiquitination and OPTN recruitment as a shared mechanism for driving immune signalling by cGAS, TLR3 and TLR4, with functional relevance in inte...
bit.ly
March 25, 2026 at 4:05 PM
ME/CFS & Long COVID Research Monitor — Mar 17–24, 2026

Key papers: cGAS inhibitor on SAMHD1 cells, SAMHD1 phenotype study, IFN-γ as LC biomarker, immune exhaustion (Nat Immunol)

🧵 #MECFS #LongCovid #interferonopathy
March 25, 2026 at 6:28 AM