#interferonopathy
@cellcellpress.bsky.social spotlight
Caspase-8 loss stings the skin: STING drives necroptosis and interferonopathy
www.cell.com/molecular-ce...
on @nature.com
www.nature.com/articles/s41...
October 17, 2025 at 4:41 PM
My thesis paper is out in @elife.bsky.social! We look forward to making it even better as we respond to our (very kind) reviewer comments. Till then, see how we created a novel microglia replacement system & showed that brain macs can drive brain interferonopathy!

elifesciences.org/reviewed-pre...
Microglia replacement by ER-Hoxb8 conditionally immortalized macrophages provides insight into Aicardi-Goutières Syndrome neuropathology
elifesciences.org
January 6, 2025 at 7:58 PM
ICYMI: Type I interferonopathy in ATR-X syndrome reveals a transcriptional role for cGAS
Type I interferonopathy in ATR-X syndrome reveals a transcriptional role for cGAS
Nature Reviews Immunology, Published online: 28 January 2026; doi:10.1038/s41577-026-01275-5A preprint by El-Daher et al. describes an interferonopathy-associated mutation in the chromatin remodeller ATRX, which identifies an unexpected role for nuclear cGAS in transcriptional regulation.
dlvr.it
January 31, 2026 at 10:58 AM
Interesting review by Russell Vance

"The major difference, for which we lack a satisfying explanation, is that innate immunity is able to sterilize a dose of 10^6 Legionella within a few days, whereas innate immunity fails to eliminate even a single bacillus of Mtb" #ImmunoSky
Tuberculosis as an unconventional interferonopathy
Tuberculosis is caused by Mycobacterium tuberculosis, a bacterium that accounts for more human mortality than any other. Evidence is accumulating for …
www.sciencedirect.com
December 16, 2024 at 7:32 PM
Superb Review of an interesting type I interferonopathy !

Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy url:https://rupress.org/jhi/article/1/2/e20250035/277993/Spondyloenchondrodysplasia-An-enigmatic-immuno
June 3, 2025 at 4:10 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
September 27, 2026 at 6:09 PM
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I #interferonopathy. New review from Callie Wong, Tifenn Wauquier, Yanick Crow and colleagues @institutimagine.bsky.social @uoe-igc.bsky.social‬: rupress.org/jhi/article/...

#Autoinflammation
June 11, 2025 at 2:50 PM
ADAR1 haploinsufficiency and sustained viral RdRp dsRNA synthesis synergize to dysregulate RNA editing and cause multi-system interferonopathy https://www.biorxiv.org/content/10.1101/2025.01.21.634124v1
January 23, 2025 at 12:16 AM
Excited to highlight this preprint by lead author Marie-Thérèse El-Daher and the Crow Lab @uoe-igc.bsky.social @edinburgh-uni.bsky.social

The authors describe a novel Type I Interferonopathy condition and a non-canonical role for cGAS in transcriptional regulation 🧬
January 30, 2026 at 2:47 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
ReadCube link: rdcu.be/e1RP3
February 2, 2026 at 9:02 AM
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
I have a pet theory that sarcoidosis is also an interferonopathy.

Maybe someday we will treat TB with antibiotics AND immunosuppressants?
December 16, 2024 at 7:36 PM
Caspase-8 loss stings the skin: STING drives necroptosis and interferonopathy
Caspase-8 loss stings the skin: STING drives necroptosis and interferonopathy
In a recent Nature paper, Kelepouras et al. uncover how STING licenses ZBP1-driven necroptosis through transcriptional priming and Z-nucleic acid amplification, revealing a pathogenic circuit in SAVI and highlighting the ZBP1-RIPK3-MLKL axis as a therapeutic target.
dlvr.it
October 20, 2025 at 7:15 PM
'Some emphasize how Mtb can be thought of as a stealth pathogen that evades or suppresses immune recognition. Others emphasize essentially the opposite — that Mtb elicits a robust inflammatory response that it exploits for its benefit. Both views have validity & the challenge is to reconcile them.'
Tuberculosis as an unconventional interferonopathy
Tuberculosis is caused by Mycobacterium tuberculosis, a bacterium that accounts for more human mortality than any other. Evidence is accumulating for …
www.sciencedirect.com
December 22, 2024 at 4:26 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
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
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
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
Congratulations to Dr. Kelly Sullivan, director of the Crnic Institute’s Experimental Models Program and associate professor at @cupediatrics.bsky.social‬, on presenting ”The Interferonopathy of Down Syndrome,” and to Rachel Shropshire for winning Top Student Poster at this year’s DSMIG Symposium!
August 1, 2025 at 8:38 PM
My interpretation: as we age we lose tert expression and our telomeres fray, requiring tert to activate the immune response to damaged telomeres prevents massive autoimmunity. Not so much moonlighting as a fail safe, raising the threshold to trigger interferonopathy.
August 7, 2025 at 1:34 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