Rada Miskovic

From variants to answers: The evolution of genetic counseling in IEI rupress.org/jhi/article/2/…

Urinary biomarkers improve w/ anifrolumab in TULIP-LN (lupus nephritis) trial; 112 pts, 197 uriniary proteins assessed. Urinary CD163 and MCP-1 signif improved as early as wk 12. Anifrolumab reduced the proteomic inflammatory signature, regardless of responder status buff.ly/h5ngidE

@lupuscyclopedia Thanks for sharing! 🍀

Here is a link to a copy of our latest article on how to properly dose hydroxychloroquine. 5 mg/kg/day is NOT the correct dosing for HCQ. Please share with all healthcare providers so they have a deep understanding on proper prescribing of this important medication. Link to the pdf article itself: 1drv.ms/b/c/37bf2c3769… Online Link: acrjournals.onlinelibrary.wiley.com/doi/epdf/10.10… This is the accepted version of an article published in Arthritis, Care, and Research but has not gone through copy editing. This is a "Full Access" article. This article is protected by copyright. All rights reserved: Arthritis, Care, & Research

A 2 yr. old female pt reported w/ a a novel P435S gain-of-function variant in TLR7 (thought pathogenic in SLE) - pt dx w/ juvenile SLE, recurrent infection, and neuroinflammatory features. A review of 12 other TLR7 GOF variants revealed similar SLE associations. buff.ly/G5JlxCD

100 women w/ severe preeclampsia (PE) compared to 40 pregnant controls. antiphospholipid antibodies (aPL) was significantly more prevalent iin PE women (34% vs 10%) [OR = 4.63]. aPL positivity was also linked to both early and late severe PE [OR = 4-5, p = .008]. buff.ly/rZhzHTr

👉Real-world data in SLE: tacrolimus was associated with 60% lower infection risk compared with conventional immunosuppressants, with greater benefit at low doses 👉The effect was consistent across steroid exposure link.springer.com/article/10.100…

Factors that may augment future development of SLE - includes Vitamin D levels, poor sleep, EBV reactivation & social determinants of health. Can you Prevent SLE? Dr. David Karp lecturing at UTSW @drdavidkarp @utswrheum

Happy to share our study (open access) 🚨Targeting the #platelet-neutrophil/#autophagy/TF-expressing #NETs axis by #CD40-CD40L inhibition attenuates #thromboinflammation in #antiphospholipid syndrome. @eular_ARD sciencedirect.com/science/articl…

Pre-registrations for the 8th SLEuro Advanced Workshop on SLE are already open! 📍 Stockholm, Sweden 🇸🇪 🗓️ 8-9 May 2026 ⏰ Deadline: 8th March 2026 Pre-register here: services.aimgroup.eu/ASPClient/home… Discover the Preliminary Programme and more: sleuro.org/advanced-works…

A 2 yr. old female pt reported w/ a a novel P435S gain-of-function variant in TLR7 (thought pathogenic in SLE) - pt dx w/ juvenile SLE, recurrent infection, and neuroinflammatory features. A review of 12 other TLR7 GOF variants revealed similar SLE associations. buff.ly/G5JlxCD

IgA defects in CVID lead to bacterial translocation, increased serum γ-interferon, and BAFF rupress.org/jhi/article/2/…

TLR7 F507S gain-of-function mutation presenting with early-onset SLE and hypertriglyceridemia: Response to JAK inhibition rupress.org/jhi/article/2/…

New in DADA2 👇 Not all DADA2 is recessive. We were taught: • Autosomal recessive • Heterozygous carriers = asymptomatic 🚨 That paradigm is wrong. Some ADA2 variants don’t just lose function — they poison the normal protein. 👇 What’s actually happening 🔁 Mutant ADA2 binds wild-type ADA2 🧱 Forms non-functional dimers 🚫 Traps WT protein & blocks secretion 📉 Enzyme activity falls well below 50% This is not haploinsufficiency (50% ADA2 should be enough) ⚠️ This is a DOMINANT-NEGATIVE mechanism 📉 Result: 👉 Serum ADA2 may look “carrier-like” 👉 Routine assays MISS the diagnosis Clinical impact (even with ONE variant, e.g. R169Q): • Vasculitis • Stroke • Raynaud’s • Immunologic & cutaneous disease Take-home A single ADA2 variant can cause DADA2 -not by loss of quantity, but by poisoning function. Think dominant-negative, not recessive. #DADA2 #DominantNegative #Vasculitis #StrokeInYoung #InbornErrorsOfImmunity #Rheumatology #Immunology @DrAkhilX @IhabFathiSulima @CelestinoGutirr @DurgaPrasannaM1

👉Hypertension and lupus nephritis increase PRES risk in SLE 👉Outcomes generally good 👉BP control is crucial #SLE #PRES lupus.bmj.com/content/12/2/e…

2025 ACR Guideline for the Treatment of SLE The ACR has released its 2025 Systemic Lupus Erythematosus (SLE) treatment guidelines and consensus-based good practice statements, applicable to children and adults with SLE. buff.ly/PSGJSdT

💡A novel broad-spectrum antiviral prophylactic strategy based on mRNA formulation of 10-ISG collection #IFN science.org/doi/10.1126/sc…

✅ Already 100 participants to the #LBFSS #brainfog validation study 👍 Thank YOU - As a reminder this is a non-profit fully academic patient-researcher initiative. If you have #LUPUS and 15 minutes of free time, please help us validate the LBFSS 🙏 LINK: lupusresearch.limequery.org/337533?lang=en

HCQ blood level monitoring may better balance efficacy and safety than fixed dosing. 👉Ocular toxicity rises at blood levels ≥1150ng/mL (while 5 mg/kg/day dosing is linked to more flares) 👉CKD ≥3 increases risk of supratherapeutic levels. #SLE #HCQ acrjournals.onlinelibrary.wiley.com/doi/10.1002/ar…

🚨 #Anifrolumab approved in the European Union for subcutaneous self-administration as a new pre-filled pen for systemic #lupus erythematosus 👌⬇️ astrazeneca.com/media-centre/p…

👉There is a need for IEI-specific screening and treatment guidelines. 👉ESID registry data showed that malignancy is common in IEI, and sometimes may the first presentation. jacionline.org/article/S0091-…