VEXAS Syndrome: The Late-Onset Inflammatory Disease of Older Men

Table of Contents

  1. The 2020 Discovery and the Gene
  2. Who Gets It
  3. Fever, Skin, Lungs, Cartilage and Clots
  4. Blood Counts and Marrow Vacuoles
  5. Overlap With Other Diseases
  6. How It Is Diagnosed
  7. Survival by Genotype
  8. Steroids and Anti-Inflammatory Drugs
  9. Azacitidine
  10. Janus Kinase Inhibitors
  11. Stem Cell Transplant
  12. What Is Not Known
  13. Key Research Papers
  14. Connections
  15. Featured Videos

The 2020 Discovery and the Gene

VEXAS syndrome is a disease that begins late in life, mostly in men. Fevers, skin sores, inflamed lungs and inflamed ears arrive together with falling blood counts. For years people with this pattern were given other labels, such as relapsing polychondritis, a blood vessel disease, or a bone marrow disorder. In 2020 researchers showed that many of them shared one change in one gene, in the stem cells that make blood.

The name is a list of the disease’s features: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS). Each word has a plain meaning:

The way the disease was found is unusual. Most diseases are described first and explained later. The team behind the 2020 report (Beck and colleagues, New England Journal of Medicine) worked in the opposite direction. They searched blood gene data for harmful changes in genes tied to ubiquitin, without first sorting people by their symptoms. They found 25 men with a change at one spot in the gene for ubiquitin-like modifier-activating enzyme 1 (UBA1). These men had an often fatal inflammatory illness that treatment had not controlled.

Ubiquitin is a small tag that cells attach to other proteins, and UBA1 is the major enzyme that starts the tagging. Every person’s cells normally make a main form of the enzyme, used in the body of the cell, and the instructions for it begin at position 41 of the gene’s protein code. The changes in VEXAS syndrome hit exactly that starting point. The cell loses the normal form and makes a weaker version that starts later, at position 67. Blood cells carrying the change showed less tagging and switched-on inflammatory pathways. Knocking out the matching form of the enzyme in zebrafish caused body-wide inflammation in the fish.

In the 2020 report the change was found in more than half of the blood-forming stem cells, and in the myeloid white blood cells they produce, but not in lymphocytes or in connective tissue cells called fibroblasts. A 2023 Spanish cohort of 30 men later detected the variants in tissues outside the blood as well, and its authors wrote that this questions the idea that the change is limited to myeloid blood cells.

Who Gets It

The typical person with VEXAS syndrome is a man around 70. Reported ages include a median of 66 years at diagnosis in a French series, a mean onset of 67.5 years in Spain, a median of 67 years at diagnosis in Italy, and a median onset of 71.4 years in Japan. Younger people are recorded too: ages ran from 39 to 79 in a cohort of 112, and from 29 to 86 in a review of 166 treated patients.

How common it is depends on how people are counted. Among 163,096 people in one US regional health system, whose genes were read regardless of illness, 11 carried a disease-linked variant and all 11 had features that fit VEXAS syndrome. That came to 1 in 13,591 unrelated people, 1 in 4269 men over 50 (95% confidence interval 1 in 2319 to 1 in 7859) and 1 in 26,238 women over 50 (95% confidence interval 1 in 7196 to 1 in 147,669). Its participants were 94% White, and its authors note that it describes a single regional system.

A later study complicates the picture. Among 245,368 people in the US All of Us research program, 74 carried one VEXAS-defining variant, and 62 of them (84%) were women. Carriers were more often young and of diverse ancestry than people with known VEXAS syndrome. The share of their blood carrying the variant ranged from 4.5% to 33%, lower than in known patients, and health records showed no significant link to any VEXAS-related diagnosis, medicine or lab value. The authors concluded that this variant does not always lead to disease.

Men and women in the studies

A 2025 international study compared 12 women with 301 men, all with the gene change confirmed. Their symptoms, age at onset, type of variant, share of affected blood and death rates were comparable. Six of the 8 women tested had lost one X chromosome in their cells, which would leave them, like men, with only one working copy. The change was not universal, so the authors suggest other routes to disease exist in women. Three further women carried the variant without typical inflammation.

Fever, Skin, Lungs, Cartilage and Clots

The largest early description is a French registry of 116 patients. It recorded these main features:

A Spanish cohort of 30 men gave similar results, with skin lesions in 90%, fever in 66.7%, lung findings in 66.7% and arthritis in 53.3%. Severity and pattern differ widely, which is one reason the disease can pass unrecognized. In the unselected US study, 5 of 11 people did not meet the criteria for any rheumatologic or blood diagnosis previously tied to VEXAS syndrome, although all 11 were anemic.

Skin. In a US cohort of 112 patients, skin problems occurred in 83% and were the most frequent first feature (68 patients, 61%). Under the microscope the most common patterns were inflamed small blood vessels (36% of reports), a skin reaction packed with neutrophil white cells (34%) and inflammation around blood vessels (30%). The pattern tended to follow the variant. People with the p.Met41Leu variant mostly had neutrophil-filled skin, often resembling a form of Sweet syndrome (14 of 17, 82%). People with the p.Met41Val variant more often had vessel-type lesions (11 of 20, 55%).

Lungs. In the French cohort of 114 patients, 45 (39%) had chest scan findings judged to come from the disease. Of those 45, 44% reported breathlessness and 40% reported cough. All had patchy shadows on the scan, including ground-glass areas in 87% and solid-looking areas in 49%, and 53% had fluid around the lung. Most improved with prednisone, though usually above 20 mg a day. The authors wrote that it does not seem to lead to lung scarring, and that lung involvement may have been under-recognized in the rest of the cohort, since only 51 people had a scan available for review.

Cartilage. Red, sore ears and noses are the feature most likely to bring relapsing polychondritis to mind. Relapsing cartilage inflammation appeared in 36% of the French registry and 49% of an Italian cohort of 41 men, so many people with VEXAS syndrome were recorded without it.

Clots. Among 119 patients studied for clots, 49% had one, mostly in the veins (41%). Almost two-thirds of the vein clots had no obvious trigger, 41% came back, and 20% happened despite blood thinners. The cumulative chance of a vein clot was 17% one year after symptoms began and 40% by five years. For artery clots it was 6% and 11%. Those authors concluded that clot prevention belongs in high-risk settings unless strongly contraindicated. Sudden breathlessness, chest pain and a swollen, painful leg are signs hospitals treat as urgent, because they can mean a deep vein clot or a clot in the lung.

Blood Counts and Marrow Vacuoles

The blood count is often where the disease shows itself most plainly. All 11 people in the unselected US study had anemia, with a mean hemoglobin of 7.8 g/dL. In 10 of the 11 the red cells were larger than normal, called macrocytic anemia, and 10 of the 11 had low platelets. In an Italian cohort of 41 men every patient was anemic with enlarged red cells, at a median hemoglobin of 9.1 g/dL.

Other cell lines fall too. In a US series of 16 men, macrocytic anemia was present in all and low lymphocytes in 80%. A review of 111 marrow samples from 52 men found monocytes, another white cell type, often low as well. Those authors suggested that low monocytes and an unusual look of the platelet-making cells may help point toward VEXAS syndrome.

Large red cells have several common causes, including low vitamin B12. Inflammation markers add to the picture: in the French comparison, median C-reactive protein was 64 mg/L in people with VEXAS syndrome and relapsing polychondritis, against 10 mg/L in those with relapsing polychondritis alone.

Vacuoles in the marrow

The “V” in the name comes from bubbles inside young red cells and young myeloid white cells in the bone marrow. They were seen in all 16 marrows in the US series, in more than 95% of cases among the 52 men, and in 89% of the Italian cohort. The marrow itself was often crowded with cells, and it can show varying degrees of the abnormal cell shapes called dysplasia.

Vacuoles are common in VEXAS syndrome but do not prove it, and the 52-man study lists this lack of specificity as a problem for screening. A US center tried working backward from marrow reports. Out of 292 patients whose reports mentioned vacuoles, 64 went on to chart review after exclusions, and 21 raised moderate to high suspicion. Only 8 of those had DNA available, and 7 of the 8 (87.5%) carried a disease-causing variant. These were people whose VEXAS syndrome had gone undiagnosed until then.

Overlap With Relapsing Polychondritis and Myelodysplastic Syndrome

The 2020 report’s central finding was that one gene change connects diagnoses thought to be separate. Most of the first 25 men met the criteria for an inflammatory disease (relapsing polychondritis, Sweet syndrome, polyarteritis nodosa or giant cell arteritis), a blood disorder (myelodysplastic syndrome or multiple myeloma), or both.

Relapsing polychondritis

The relapsing polychondritis page describes that disease in full, including how often VEXAS syndrome hides within it. A French series of 95 patients shows how different the two groups look side by side:

Steroid use and the number of steroid-sparing drugs were similar in the two groups.

Myelodysplastic syndrome

Myelodysplastic syndrome is a group of marrow disorders in which stem cells make too few healthy blood cells. How often it comes with VEXAS syndrome differs widely by study: 50% in the French registry of 116, 46% in a UK cohort, 6 of 16 in the US series, 71% in Italy, and 75% in the French series with relapsing polychondritis. Rates of 80% and 81% come from groups selected because they received azacitidine or a related drug, medicines already used for the marrow disorder.

The marrow disease was often on the milder end. All 6 cases in the US series were lower risk with no known progression to leukemia, and the Italian cases were chiefly lower risk. Serious outcomes still occur: 2 of the Italian patients progressed to acute leukemia, and 3 of the 18 deaths in the French registry came from worsening of the marrow disorder.

Other blood conditions appear as well. The US series included multiple myeloma in 2 of 16, and the French registry recorded 12 cases of monoclonal gammopathy, an overproduction of one antibody type, all in people who also had the marrow disorder. In the Italian cohort the gene most often changed besides UBA1 was DNMT3A (10 patients), followed by TET2 (3 patients). The US authors wrote that while VEXAS syndrome shows up as a rheumatologic disease, illness and death are tied to progression to blood disease.

How It Is Diagnosed

The diagnosis is confirmed by a genetic test for a UBA1 variant in blood or marrow. What makes it hard is reaching the point where someone orders the test. Reviews describe the usual clues as an older man with unexplained fever and inflammation that keeps returning, together with large red cells, low monocytes or low platelets, and vacuoles in a marrow sample.

Several research groups have stated who they think warrants testing, and these are reports of their conclusions:

In 2025 the American College of Rheumatology published the first formal international consensus guidance on the disease. It addresses clinical features, how to screen for UBA1 variants, how to diagnose myelodysplastic syndrome in people with VEXAS syndrome, and prognosis and management. It was built from expert meetings and voting, because the panel found few studies and no prior clinical guidance.

Access to the test is uneven. A 2024 review says testing is not yet universally available. In an Italian national survey, 13 of 29 centers ran the test on site, by several different methods. Most known cases involve position 41 of the protein, written p.Met41, but others exist: 7% of the French registry had splice-site changes, and the 2023 US study reported a new variant elsewhere in the gene, p.Ser621Cys, in a person with symptoms.

A positive result alone does not settle whether someone has the illness. One man in the US study carried the variant before any signs of disease, and the 74 All of Us carriers showed no measurable clinical pattern. The test is read alongside symptoms and blood findings.

Survival by Genotype

Three variants at position 41 make up most cases, each replacing the amino acid methionine with another one. In the French registry the split was threonine (p.Met41Thr) 45%, valine (p.Met41Val) 30% and leucine (p.Met41Leu) 18%. The Italian cohort reported 51%, 27% and 8%. The genotypes do not carry the same outlook.

The published summaries report a direction rather than a survival percentage for each genotype, so no percentage per genotype appears here.

Other findings tied to outlook

In the 83-patient study, needing regular blood transfusions was independently linked to shorter survival, and inflamed ear cartilage to longer survival. The French registry grouped people into three clusters by analyzing their features, with these five-year survival chances:

Why overall figures disagree

Published death rates range widely, because studies differ in length of follow-up and in who gets included:

Infection as a leading cause of death

Infection stands out in the death counts. In the French registry, 9 of 18 deaths were from infection. In the study of serious infections, 15 of the 27 deaths (56%) were, and the lung was the most common site (59%). The main lung germs were the COVID-19 virus (28%), Legionella (21%) and the fungus Pneumocystis (19%). Sixteen percent of severe infections happened in people on no immune-suppressing drug and at most 10 mg of steroid a day, and the authors raised the possibility of an immune weakness built into the disease itself.

A US study of 94 patients found Pneumocystis pneumonia in 6%, reactivated viruses of the chickenpox and cold sore family in 15% and nontuberculous mycobacterial infection in 10%. Monthly risk of death rose steeply after Pneumocystis pneumonia (hazard ratio 72.41, 95% confidence interval 13.67 to 533.70) and after mycobacterial infection (hazard ratio 29.09, 95% confidence interval 9.51 to 88.79). Over an 8-month watch, preventive medicines lowered these infections, with 4 people treated per Pneumocystis case prevented and 7 per case of the chickenpox and shingles virus prevented.

Steroids and Anti-Inflammatory Drugs

No randomized trial has compared treatments for VEXAS syndrome. Nearly everything below comes from looking back at patient records, usually without a control group, so response rates from different studies are not directly comparable. Definitions matter too: two large cohorts counted a complete response only with clinical remission, C-reactive protein of 10 mg/L or less and prednisone or its equivalent at 10 mg a day or less.

Steroids work on the inflammation for most people, but they tend to become permanent. In a 2026 Japanese study all 46 men received them, at a mean highest dose of 47.4 mg a day. The mean lowest dose reached was 8.5 mg a day, most needed at least 10 mg a day continuously, and tapering was generally difficult. Only 5 of 12 closely followed patients (42%) reached complete remission even once. Most of the Spanish cohort became steroid-dependent. Prednisone improved skin lesions in 67 of 73 patients (92%) in the US skin study. A 2023 systematic review found steroids alone produced a complete response in 1 of 6 and a partial response in 4 of 6, a very small group.

Interleukin-6 blockers such as tocilizumab target one inflammatory signal. In the French study of targeted drugs, overall response was 32% at 3 months and 26% at 6 months. In the UK cohort, 7 of 11 people still taking tocilizumab had responded at 6 months (4 complete), and median C-reactive protein fell from 30 to 4 mg/L. Infections occurred in 9 of 19 (47%).

Interleukin-1 blockers did less well in France, with a 9% response at 3 months. Anakinra was often hard to tolerate because of severe injection-site reactions, seen in 12 of 16 patients (75%) in the US skin study. In the UK cohort, 8 of 13 stopped it, 5 of them for such reactions, although all 3 who remained on it at 6 months had responded. Tumor necrosis factor blockers showed no response at 3 months in the French study.

Azacitidine

Azacitidine is a hypomethylating drug already used for myelodysplastic syndrome. Unlike the anti-inflammatory drugs above, it has been reported to lower the share of mutated blood cells. An early French report saw a clinical response in 5 of 11 patients (46%).

The largest study so far is a 2025 French analysis of 88 patients, 80% of whom met criteria for myelodysplastic syndrome:

A 2026 systematic review of 166 patients treated with this drug class reported an inflammatory response in 59% and a blood count response in 74%. The mutated blood cells fell below 2% in 32 of the 63 tested (51%). Side effects were the most common reason for stopping. Decitabine, a related drug, also brought positive responses in the Spanish cohort. A small series of 4 patients without the marrow disorder saw clinical improvement and sharply lower variant levels, along with fewer vacuoles.

The UK cohort found that 10 of 11 people still taking azacitidine at 6 months had responded (3 complete), with mean hemoglobin rising from 104 to 120 g/L, and they were more likely to respond than people on other treatments (risk ratio 2.47). Infections were also frequent, in 8 of 13 (62%). A figure limited to those who stayed on the drug leaves out people who stopped because of poor response or side effects.

Janus Kinase Inhibitors

Janus kinase (JAK) inhibitors are pills that block several inflammatory signals at once. Results differ from study to study:

Safety is the main concern. In the French registry of serious infections, Janus kinase inhibitors were the treatment most linked to them, compared with biologic drugs and azacitidine (hazard ratio 3.84, 95% confidence interval 1.89 to 7.81). The 2023 systematic review pointed to an elevated risk of vein clots with these drugs, in a disease already prone to clots. Among those who stopped in the French study, causes were no initial response in 43%, lost response in 14%, a serious side effect in 19% and death in 19%.

Stem Cell Transplant

An allogeneic stem cell transplant replaces a person’s blood-forming system with a donor’s. Because the mutated cells are the source of the disease, this is the one treatment reviews describe as potentially curative. It is also the most dangerous, and the evidence is short-term.

A 2026 multicenter record review compared outcomes in 31 people given a transplant and 35 given azacitidine-type drugs, over a median of 18 months. Deaths numbered 3 and 11 respectively. Every evaluable transplant patient reached molecular remission, meaning the mutated cells fell to very low levels, and 58% came off steroids. In the drug group the figures were 22% and 6%. After adjustment for age and other illnesses, transplant was linked to longer survival (hazard ratio 0.20, 95% confidence interval 0.05 to 0.81), a result that held when the analysis was limited to people aged 75 or younger.

The study was not randomized and the drug group was older, so its authors describe transplant as an option for selected patients and call for prospective confirmation. Typical patients are near age 70, while the median age in the 33-person transplant review was 59. One review describes transplant as an option for younger, fit patients with poor outlook or symptoms that do not respond.

What Is Not Known

Decisions about medicines, tests and transplant belong with a clinician who knows the person’s situation.

Key Research Papers

  1. Beck DB, Ferrada MA, Sikora KA, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020;383(27):2628-2638. PubMed PMID: 33108101
  2. Beck DB, Bodian DL, Shah V, et al. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023;329(4):318-324. PubMed PMID: 36692560
  3. Corty RW, Brogan J, Byram K, et al. VEXAS-Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort. Arthritis Rheumatol. 2024;76(6):942-948. PubMed PMID: 38225170
  4. Bourguiba R, Lacombe V, Beck D, et al. Characterizing VEXAS syndrome in women: Findings from an international multicenter study. J Intern Med. 2025;298(5):516-524. PubMed PMID: 40985189
  5. Georgin-Lavialle S, Terrier B, Guedon AF, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022;186(3):564-574. PubMed PMID: 34632574
  6. Ferrada MA, Savic S, Cardona DO, et al. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022;140(13):1496-1506. PubMed PMID: 35793467
  7. Ferrada MA, Sikora KA, Luo Y, et al. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS. Arthritis Rheumatol. 2021;73(10):1886-1895. PubMed PMID: 33779074
  8. Khitri MY, Guedon AF, Georgin-Lavialle S, et al. Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients. RMD Open. 2022;8(2):e002255. PubMed PMID: 35868738
  9. Mascaro JM, Rodriguez-Pinto I, Poza G, et al. Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism. Ann Rheum Dis. 2023;82(12):1594-1605. PubMed PMID: 37666646
  10. Gurnari C, Pascale MR, Vitale A, et al. Diagnostic capabilities, clinical features, and longitudinal UBA1 clonal dynamics of a nationwide VEXAS cohort. Am J Hematol. 2024;99(2):254-262. PubMed PMID: 38108611
  11. Tan IJ, Ferrada MA, Ahmad S, et al. Skin Manifestations of VEXAS Syndrome and Associated Genotypes. JAMA Dermatol. 2024;160(8):822-829. PubMed PMID: 38865133
  12. Borie R, Debray MP, Guedon AF, et al. Pleuropulmonary Manifestations of Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome. Chest. 2023;163(3):575-585. PubMed PMID: 36272567
  13. Kusne Y, Ghorbanzadeh A, Dulau-Florea A, et al. Venous and arterial thrombosis in patients with VEXAS syndrome. Blood. 2024;143(21):2190-2200. PubMed PMID: 38306657
  14. Obiorah IE, Patel BA, Groarke EM, et al. Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021;5(16):3203-3215. PubMed PMID: 34427584
  15. Olteanu H, Patnaik M, Koster MJ, et al. Comprehensive morphologic characterization of bone marrow biopsy findings in a large cohort of patients with VEXAS syndrome: A single-institution longitudinal study of 111 bone marrow samples from 52 patients. Am J Clin Pathol. 2024;161(6):609-624. PubMed PMID: 38413044
  16. Hines AS, Koster MJ, Bock AR, et al. Targeted testing of bone marrow specimens with cytoplasmic vacuolization to identify previously undiagnosed cases of VEXAS syndrome. Rheumatology (Oxford). 2023;62(12):3947-3951. PubMed PMID: 37228016
  17. Mekinian A, Georgin-Lavialle S, Ferrada MA, et al. American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel. Arthritis Rheumatol. 2026;78(3):509-522. PubMed PMID: 40787890
  18. Koster MJ, Lasho TL, Olteanu H, et al. VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management. Am J Hematol. 2024;99(2):284-299. PubMed PMID: 37950858
  19. Nakajima H, Kunimoto H. VEXAS syndrome. Int J Hematol. 2025;122(3):341-350. PubMed PMID: 38819628
  20. de Valence B, Delaune M, Nguyen Y, et al. Serious infections in patients with VEXAS syndrome: data from the French VEXAS registry. Ann Rheum Dis. 2024;83(3):372-381. PubMed PMID: 38071510
  21. Czech M, Cuellar-Rodriguez J, Patel BA, et al. Opportunistic Infections, Mortality Risk, and Prevention Strategies in Patients With Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome. Open Forum Infect Dis. 2024;11(7):ofae405. PubMed PMID: 39077052
  22. Maeda A, Kirino Y, Tsuchida N, et al. High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study. Mod Rheumatol. 2026;36(2):307-312. PubMed PMID: 41065660
  23. Boyadzhieva Z, Ruffer N, Kötter I, Krusche M. How to treat VEXAS syndrome: a systematic review on effectiveness and safety of current treatment strategies. Rheumatology (Oxford). 2023;62(11):3518-3525. PubMed PMID: 37233149
  24. Hadjadj J, Nguyen Y, Mouloudj D, et al. Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX. Ann Rheum Dis. 2024;83(10):1358-1367. PubMed PMID: 38777378
  25. Al-Hakim A, Trikha R, Phyu Htut EE, et al. Treatment outcomes in patients with VEXAS syndrome: a retrospective cohort study. Lancet Rheumatol. 2025;7(7):e472-e484. PubMed PMID: 40412417
  26. Comont T, Heiblig M, Rivière E, et al. Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry. Br J Haematol. 2022;196(4):969-974. PubMed PMID: 34651299
  27. Jachiet V, Kosmider O, Beydon M, et al. Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from FRENVEX. Blood. 2025;146(12):1450-1461. PubMed PMID: 40373272
  28. Hoff FW, Trikha R, Groarke EM, Patel BA. Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review. Br J Haematol. 2026;208(3):819-828. PubMed PMID: 41531276
  29. Álamo JR, Torres LM, Castaño-Díez S, et al. Hypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow-up of vacuolization and UBA1 clonal dynamics. Br J Haematol. 2025;206(2):565-575. PubMed PMID: 39806534
  30. Heiblig M, Ferrada MA, Koster MJ, et al. Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study. Blood. 2022;140(8):927-931. PubMed PMID: 35609174
  31. Bahramian S, Fazeli P, Rafati A, et al. JAK Inhibitors for Treatment of VEXAS Syndrome: A Systematic Review of 186 Cases. Dermatol Res Pract. 2025;2025:9127126. PubMed PMID: 40977752
  32. Mohty R, Reljic T, Abdel-Razeq N, et al. Assessing the efficacy of allogeneic hematopoietic cell transplantation in VEXAS syndrome: results of a systematic review and meta-analysis. Bone Marrow Transplant. 2024;59(10):1423-1427. PubMed PMID: 39060513
  33. Ali SB, Gurnari C. Allogenic haematopoietic stem cell transplantation in VEXAS: A review of 33 patients. Clin Rheumatol. 2024;43(11):3565-3575. PubMed PMID: 39347920
  34. Diarra A, Duployez N, Fournier E, et al. Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience. Blood Adv. 2022;6(3):998-1003. PubMed PMID: 34714914
  35. Dias AL, Groarke EM, Hickstein D, Patel B. Role of allogeneic hematopoietic cell transplantation in VEXAS syndrome. Ann Hematol. 2024;103(11):4427-4436. PubMed PMID: 39168911
  36. Fathima S, Wong MM, Gonzalez-Lugo J, et al. Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents. Am J Hematol. 2026;101(9):2166-2176. PubMed PMID: 42260942

PubMed Topic Searches

  1. PubMed: VEXAS syndrome
  2. PubMed: VEXAS, UBA1 and survival
  3. PubMed: VEXAS and azacitidine
  4. PubMed: VEXAS and Janus kinase inhibitors
  5. PubMed: VEXAS and stem cell transplant

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