VIGNESH P retweetledi
VIGNESH P
1.1K posts

VIGNESH P
@vignesh_pgi
Associate Professor (Pediatrics), Ped. Allergy Immunology Unit, PGIMER, Chandigarh, India
Chandigarh Katılım Temmuz 2011
462 Takip Edilen515 Takipçiler
VIGNESH P retweetledi
VIGNESH P retweetledi

1/ Thrilled to share a Perspective that summarizes 30 years of work from the many labs studying the human genetic and immunological causes of infectious diseases: doi.org/10.70962/jhi.2…
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VIGNESH P retweetledi

New from us: DADA2 cells exhibition increased cell death levels. Congratulations @immunophilia @marjon_wouters and the entire ADA2 team. Thank you for funding our work @ERC_Research and @FWOVlaanderen. rdcu.be/e9Aub
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This is a true story. A professor in India's premier educational engineering institution caught a student cheating in the exams and suspended him. Next day morning, the boys father who was a senior bureaucrat landed at his home and requested that the matter be forgotten and closed. When the requests and pleadings failed, The professor was warned of consequences. The academic that he was, the professor stuck to his guns.
The harassment started. Within a week an income tax notice was served on him seeking details of his foreign travels. A few days later, police landed up investigating a house purchased by the professor in his home town. Later the income tax investigated the sources of funds for that home. In the process of scrutiny, they questioned a few more 'source of funds'. For a professor working in a remote corner of India, this was all too much. He contemplated giving it all up and taking another job. The notices, hearings, responses and harassment continued for about 20 months. Luckily the professor was clean. His foreign travel was official. The house was in a new housing society set up by a group of academics. The management was supportive.
'For 20 months, they robbed me of my sleep', says the professor. On prodding if he would take a similar stand again, he painfully says 'I doubt'!
If you indeed want to fight corruption, the starting point has to be the source of corruption - the discretionary powers, arbitrariness and their abuse. It is rampant and completely normal. Remove the discretionary powers and 98% honest people will not worry of harassment when they do what is right!
@suchetadalal This story is being retold. Our education ecosystem is subsumed by corruption. And it is normal too..
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VIGNESH P retweetledi

Kaposi sarcoma is a virus-driven cancer.
Yes, it’s linked to HIV and transplants.
But it can also strike people without obvious immunodeficiency. Why?
We found a genetic mutation that reveals a molecular pathway behind this mystery.
sciencedirect.com/science/articl…
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VIGNESH P retweetledi

Disease biology is guiding therapy in myositis.
• Genetics and myositis-specific autoantibodies help define clinical phenotypes.
• Type I interferon signature → seen predominantly in Dermatomyositis (DM).
• Type II interferon signature → reported in both Dermatomyositis and Antisynthetase Syndrome (ASS).
• Interferon pathways are emerging therapeutic targets.
Emerging therapies :
• Anifrolumab – targets the Type I interferon receptor
• Dazukibart – interferon-β inhibitor
• JAK inhibitors – indirectly modulate interferon signaling pathways
Precision immunology is reshaping how we approach treatment in idiopathic inflammatory myositis.
#Myositis #Dermatomyositis #Rheumatology #PrecisionMedicine
@IhabFathiSulima

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VIGNESH P retweetledi

authors.elsevier.com/sd/article/S00…
Most patients with RELA deficiency carry nonsense or frameshift variants. Mutations before aa290 cause haploinsufficiency, while those after aa290 act dominantly, often with excess type I IFN and more severe disease.
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VIGNESH P retweetledi

Nearly 40% of new cancer cases worldwide are potentially preventable, according to one of the first investigations of its kind
go.nature.com/4awFzFf
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@lostpaedsdoc Dr Sangeetha- your photographs remind me of the Tamil culture which I miss these days
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VIGNESH P retweetledi

Why do so many apparently healthy people die or get severely ill from infections that would be considered low risk?
For one, we don't have any way of assessing a person's immune system function in the clinic
nature.com/articles/d4158…

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VIGNESH P retweetledi

Excited to share our latest work published today in @NatImmunol! 🎉 Together with Taja Vatovec, we investigated how somatic CBL deficiency affects B cell development and function. nature.com/articles/s4159…
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VIGNESH P retweetledi

Monogenic disorders of immunity: Common variants are not so rare: Cell Genomics cell.com/cell-genomics/…
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VIGNESH P retweetledi

What is new in lupus (2025) ?
We now understand lupus as a disease of TLR7 dysregulation.
Three key genetic mechanisms illustrate this.
🧵👇
TLR7 gain-of-function
TLR7 recognizes ssRNA in endosomes.
Gain-of-function variants → constitutive TLR7 signalling → excess type I interferon → lupus.
UNC93B1 mutations
UNC93B1 controls trafficking of TLR7 from ER to endosomes.
Pathogenic variants → increased endosomal TLR7 availability → amplified interferon signalling → lupus.
The new addition: PLD4
PLD4 is an endosomal exonuclease that degrades self ssRNA/ssDNA.
Loss-of-function → nucleic acid accumulation → failure to terminate TLR7/TLR9 activation.
The clinical insight
This pathway is not limited to childhood lupus.
Adult-onset disease (>40 years) has been reported.
Monogenic lupus can present late.
The therapeutic implication
TLR7-driven interferon excess → JAK inhibition is rational.
📉 Baricitinib reduces interferon hyperactivation.
Take-home message:
Different genes. Same pathway.
TLR7 overactivation is central to lupus.It is time for genetics-guided lupus care.
#SLE #TLR7 #UNC93B1 #PLD4 #TypeIInterferon #MonogenicLupus #JAKinhibitors #Rheumatology @DrAkhilX @IhabFathiSulima @CelestinoGutirr @DurgaPrasannaM1

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VIGNESH P retweetledi

Severe allergic inflammation is a hallmark of primary atopic disorders (PADs). What can be learned from studies highlighting the therapeutic effect of IL-4R/IL-13R blockade in a spectrum of PADs with diverse mechanisms? Learn more. bit.ly/4rIn87q
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VIGNESH P retweetledi

1/ We are excited to share our new report in @JExpMed showing that almost 40% cases of herpesvirus (HSV)-triggered fulminant viral hepatitis (FVH) are due to pre-existing autoantibodies neutralizing type I IFN (autoAbs-IFN) (doi.org/10.1084/jem.20…).
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VIGNESH P retweetledi

Our understanding of the role of regulatory T (Treg) cells in immune regulation has greatly benefited from the identification of inborn errors of immunity called Tregoapathies, which target different pathways governing Treg cell biology. Read on. bit.ly/4pNleR1
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VIGNESH P retweetledi

Brief Report: Prime Editing for p47ᵖʰᵒˣ-Deficient Chronic Granulomatous Disease nej.md/49OCYqx
#ASH25 | @ASH_hematology


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VIGNESH P retweetledi

👏👏This is really a remarkable breakthrough in treating patients with chronic granulomatous disease👏👏
Proud to have played a very small part in this medical miracle.
@ElieHaddad55 @Info4PI @ClinImmSoc @BCCHresearch @BCCHF @UBC @NEJM
NEJM@NEJM
Brief Report: Prime Editing for p47ᵖʰᵒˣ-Deficient Chronic Granulomatous Disease nej.md/49OCYqx #ASH25 | @ASH_hematology
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VIGNESH P retweetledi

New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
nature.com/articles/s4146…
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