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Alexandru Stieber @alexstieber.bsky.social · Aug 15

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🔗 ojrd.biomedcentral.com/articles/10....

SplenoMegaly study (SMS): exploring the etiologies for “unexplained” splenomegalies in the real world - Orphanet Journal of Rare Diseases

Background The predominant etiologies of splenomegaly (SM) are readily discernible through routine clinical assessments, yet in numerous instances, the etiological basis remains elusive. Subsequent di...

ojrd.biomedcentral.com

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Alexandru Stieber @alexstieber.bsky.social · Aug 15

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➡️ low rate of diagnostic spenectomy (4.8%)

➡️ only 2% of pts had a diagnosis of lysosomal storage diseases (10/505)

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Alexandru Stieber @alexstieber.bsky.social · Aug 15

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➡️ older age, massive splenomegaly, high platelets, high LDH levels, biopsy exploration, bone marrow exploration --> #myeloid malignancies

➡️ thrombocytopenia, abnormal y-GT levels, presence of a monoclonal peak, liver biopsy exploration --> portal hypertension

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Alexandru Stieber @alexstieber.bsky.social · Aug 15

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➡️ hypogammaglobulinemia, massive splenomegaly (>18 cm), heterogeneous spleen, lymphocytosis, presence of a #monoclonal peak, older age at inclusion --> lymphoid malignancies ⚠️

➡️ high CRP, constitutional Sx, osteoarticular symptoms --> autoimmune/inflammatory diseases

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Alexandru Stieber @alexstieber.bsky.social · Aug 15

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➡️ less than half of all patients in the cohort had a cause identified for their spleen enlargement

➡️ #lymphoid malignancies and #autoimmune/#inflammatory diseases were the most frequent etiologies in their respective categories (malignant vs non-malignant causes)

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Alexandru Stieber @alexstieber.bsky.social · Aug 15

Recent publication of the #SplenoMegaly study (SMS), with very interesting insights into the various etiologies and their possible predictive factors.

A short thread with the results 🧵

#medsky #rheumsky #hemesky

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Alexandru Stieber @alexstieber.bsky.social · Aug 12

Important to acknowledge that #Mycoplasma infections go beyond atypical #pneumonia and should be included on the EM/SJS/TEN differential!! #dermsky #medsky #pneumosky

🔗 journal.chestnet.org/article/S001...

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Alexandru Stieber @alexstieber.bsky.social · Aug 8

🔗 Source: journals.lww.com/co-allergy/p...

#medsky #allergysky

Inborn errors of immunity with atopic phenotypes in the... : Current Opinion in Allergy and Clinical Immunology

lergic diseases. We aimed to review the main clinical manifestations associated with IEIwA and summarize the available data regarding the precision medicine approach for these conditions. Recent find...

journals.lww.com

Alexandru Stieber @alexstieber.bsky.social · Aug 8

A great overview of inborn errors of #immunity with #atopic phenotypes (IElwA) highlighting the main entities included in this category, such as Hyper-IgE syndromes, #IPEX and Wiskott-Aldrich syndrome, and the major red flags that should lead clinicians to consider these primary atopic disorders.

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Alexandru Stieber @alexstieber.bsky.social · Jul 8

Further discussions on the role #upadacitinib will likely play in the therapeutic landscape of #giantcellarteritis treatment.
#medsky #rheumsky

🔗https://www.sciencedirect.com/science/article/abs/pii/S0248866325006265?via%3Dihub

Upadacitinib: A (r)evolution in the management of GCA?

Alexandru Stieber @alexstieber.bsky.social · Jun 11

www.ejinme.com/article/S095...

A man with brown macules on the limbs

A 35-year-old man presented with multiple brown macules on the limbs without associated pruritus or pain for 2 years. He observed these changes with no identifiable triggers, and noted a gradual incre...

www.ejinme.com

Alexandru Stieber @alexstieber.bsky.social · Jun 11

Rare occurence of cutaneous hemosiderin deposits in the context of secondary #hemochromatosis due to metabolic dysfunction.
#medsky #hyperferritinemia

🔗https://www.ejinme.com/article/S0953-6205(25)00121-9/fulltext

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Alexandru Stieber @alexstieber.bsky.social · May 10

Well-Established Monogenic Causes of Cerebral Small Vessel Disease

via @aanmember.bsky.social #stroke #fabry #CADASIL #CARASIL #neurosky

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Alexandru Stieber @alexstieber.bsky.social · Apr 19

Long-term efficacy and safety of colchicine and anti-IL-1 blockers in FMF:… | Saverio La Bella

Exciting news from the Eurofever community! Our new study on the efficacy and safety of colchicine and anti-IL-1 drugs in familial Mediterranean Fever is now published in the Journal of Autoimmunity —...

www.linkedin.com

Alexandru Stieber @alexstieber.bsky.social · Apr 19

Key points from #ISSAID2025

This #autoinflammatory disease congress wouldn't have been complete without some updates on #VEXAS syndrome:
- new "VEXAS man" schema, with updated manifestations
- better defined risk factors for a worse prognosis
- VEXAS-like syndromes DO exist!!

#rheumsky #medsky

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Reposted by Alexandru Stieber

Saori Abe @oriabe114.bsky.social · Apr 9

🆕 Exciting time to dive into this, especially with the FDA’s recent approval of the first and only treatment, Inebilizumab😀❣️

#IgG4RD #Rheumsky

Nature Reviews Rheumatology @natrevrheum.nature.com · Apr 7

New content online:

Nature Reviews Rheumatology, Published online: 07 April 2025; doi:10.1038/s41584-025-01240-xIgG4-related disease is a fibro-inflammatory disorder with a complex pathogenesis. Herein the authors review the latest developments in IgG4-related disease clinical phenotyping, pathophysiology and management, with a focus on the main mimics of this disease and how to approach issues related to differential diagnosis.

bit.ly

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Alexandru Stieber @alexstieber.bsky.social · Apr 10

Romanian team at #ISSAID2025 with our posters on:

➡️ RO_FMF study: patients with MEFV mutations (mostly heterozygous mutations and mild phenotypes)
➡️ case series of Romanian patients with NOD2 mutations and their clinical phenotypes

#autoinflammatory #rheumsky

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Alexandru Stieber @alexstieber.bsky.social · Mar 27

Always a pleasure sharing research in the field of autoinflammatory diseases!

Alexandru Stieber @alexstieber.bsky.social · Mar 24

Amazing overview of actinopathies by @philippe-mertz.bsky.social, Hentgen Veronique, Guilaine Boursier, Jérôme Delon and @sophiegeorgin.bsky.social, highlighting their increasingly relevant #autoinflammatory phenotypes.

#medsky #rheumsky #pedsky

⬇️⬇️
www.sciencedirect.com/science/arti...

Current landscape of monogenic autoinflammatory actinopathies: A literature review

Autoinflammatory diseases (AID) are conditions leading to a hyperactivation of innate immunity without any underlying infection, and may be poly- (e.g…

www.sciencedirect.com

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Alexandru Stieber @alexstieber.bsky.social · Mar 20

Small case series that highlights lupus tumidus as a new ddx for skin lesions of #VEXASsyndrome!!

*p.Met41Leu mutations are frequently associated with significant dermatological manifestations and mild systemic involvement
#autoinflammatory #medsky #dermsky

www.jaadcasereports.org/article/S235...

VEXAS syndrome with p.Met41Leu UBA1 gene mutation misdiagnosed as tumid lupus: A series of 3 cases

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a newly characterized late-onset systemic inflammatory syndrome with cutaneous findings and multiorgan system involvement.1...

www.jaadcasereports.org

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Reposted by Alexandru Stieber

Andrew Sanchez @asanchez.bsky.social · Mar 17

A case of "gravity is winning" masterfully dissected by Mike🚶

Episode 8 of www.dxatypia.com out now...

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Alexandru Stieber @alexstieber.bsky.social · Mar 17

What to do about pts with lymphadenopathies and histology suggestive for #Castleman? More info in this article, delineating a possibly early stage of iMCD: ⚠️asymptomatic MCD⚠️ #medsky #hemesky

ashpublications.org/bloodadvance...

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Alexandru Stieber @alexstieber.bsky.social · Mar 16

Scientific work done right, with approval by the Gen Z ers 😂

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Alexandru Stieber @alexstieber.bsky.social · Mar 16

Congratulations to Chloe Grolleau, @sophiegeorgin.bsky.social, @terrierben.bsky.social and the entire team behind this beautiful work analysing the inflammatory signatures seen in #VEXAS, MDS-cutis and refractory Sweet syndrome lesions.
#medsky #rheumsky #dermsky

jamanetwork.com/journals/jam...

Inflammatory Signatures in VEXAS Syndrome, Myelodysplasia Cutis, and Sweet Syndrome

This translational study examines the inflammatory pathways activated in skin lesions of idiopathic Sweet syndrome, myelodysplasia-cutis, and VEXAS syndrome.

jamanetwork.com

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Reposted by Alexandru Stieber

Markus Seidel Lab @seidellab.bsky.social · Feb 26

So proud and grateful for the international collaboration on #IEI and #PID in the ESID registry resulting in the preprint manuscript on current real world observational data of >30k patients‘ courses, treatments, survival estimations… #RareDiseaseDay #ResearchMatters www.medrxiv.org/content/10.1...

Inborn errors of immunity: manifestation, treatment, and outcome – an ESID registry 1994-2024 report on 30,628 patients

The European Society for Immunodeficiencies patient registry (ESID-R), established in 1994, is one of the world’s largest databases on inborn errors of immunity (IEI). IEI are genetic disorders predis...

www.medrxiv.org

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