Kawasaki disease (KD) is associated with long-term vascular sequelae, including persistent endothelial abnormalities. Data on laboratory-based markers of oxidative stress during long-term follow-up of KD patients from developing countries are limited. This study aimed to evaluate extracellular nitric oxide metabolites and neutrophil-derived reactive oxygen species (ROS) in patients with KD during follow-up and to explore their associations with coronary artery abnormalities (CAAs). In this prospective, single-centre study, 62 children with KD and 20 age- and gender-matched healthy controls (HC) were enrolled. KD patients were stratified into three groups based on time since diagnosis and further categorised by the presence or absence of CAAs. Serum nitrite and nitrate levels were measured as indicators of extracellular nitric oxide metabolism. Neutrophil ROS production was assessed using a dihydrorhodamine-123 flow cytometric assay. Serum nitrite levels were comparable across the 3 groups (Group 1: 3.46 ± 1.64; Group 2: 5.04 ± 2.55; Group 3: 5.22 ± 3.00) and HC (3.33 ± 1.98) (p = 0.06). The serum nitrate levels in KD patients across all three groups (Group 1: 63.07 ± 41.32; Group 2: 58.63 ± 27.12; Group 3: 64.57 ± 26.36) were also comparable to HC (57.49 ± 8.68) (p = 0.43). In subgroup analysis, serum nitrate levels and serum nitrite levels in KD patients with CAAs and without CAAs were comparable (Group 1: p = 0.60; Group 2: p > 0.99; Group 3: p = 0.10) and (Group 1: p > 0.99; Group 2: p > 0.99; Group 3: p = 0.90), respectively. Neutrophil ROS production (ΔMFI) was increased in KD patients, with a significant rise observed in the intermediate follow-up group 2 (> 1.5–3 years) compared with healthy controls (p = 0.03). No significant correlations were found between oxidative stress markers and systemic inflammatory parameters. Children with KD exhibit persistent oxidative stress during follow-up, as evidenced by increased neutrophil ROS production, indicating ongoing cellular oxidative activity. Elevated ROS may serve as an accessible biomarker for CAAs and long-term cardiovascular risk in KD patients on follow-up.

Abstract Organoids have emerged as good preclinical models of human tumors, facilitating translation from basic research to clinical practice. Patient derived organoids recapitulate the heterogeneity and pathophysiology of the cancer and represent the complex tissue environment of clinical tumors more closely than in vitro cell lines and animal models. In the present study, we established patient-derived cervical cancer organoids (CC-PDOs) using a modified culture protocol. Tumor specimens were obtained from treatment-naive patients diagnosed with different histological subtypes of cervical cancer (squamous cell carcinoma and adenocarcinoma). The tissues were enzymatically dissociated to generate single-cell suspensions. The cells were embedded in Matrigel and cultured in DMEM media containing defined growth factors to initiate organoid formation. Comprehensive characterization of the established PDOs (n=12) demonstrated that they retained the HPV status and histopathological features of the corresponding primary tumors. The key somatic mutations in cervical cancer-associated genes like PIK3CA, LRP1B, KMT2A, NF1, TTN, and FGFR2 were consistent in both the PDOs and the corresponding patient tumor tissue. Base variant analysis further confirmed that the organoids preserved the mutational landscape of the parent tissue, with C>T transitions representing the predominant base substitution type. The organoids directly derived from patients represent the heterogeneity of cervical cancer patients. To investigate organoids' potential for clinical translation, the correlation between the sensitivity of ex vivo tumor organoids and clinical outcomes were recorded. The ex vivo chemo-radiation responses of the PDOs showed strong concordance with the clinical outcomes of the respective patients during a six-month follow-up period, thus demonstrating their ability to capture patient radiation heterogeneity. Collectively, these findings demonstrate the feasibility of generating cervical cancer PDOs that faithfully mirror patient-specific tumor characteristics and therapeutic responses, thereby establishing a robust in vitro platform for drug screening and the advancement of personalized therapeutic strategies. Citation Format: Shalmoli Bhattacharyya, Surbhi Singla, Reena Sharma, Bhavana Rai, Rashmi Bagga, Radhika Srinivasan, Prateek Bhatia. Modeling patient-specific therapeutic outcomes in cervical cancer using organoid technology [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 676.

Primary Hemophagocytic lymphohistiocytosis (HLH) typically presents in childhood but can rarely present later, often leading to a delay in appropriate therapy due to a low index of suspicion. This study describes the clinical features, genetic findings, and outcomes of older patients with primary HLH evaluated at our center. This retrospective study was conducted at a tertiary care centre in North India between 2018 and 2025. Patients aged 12 years and above with a diagnosis of possible primary HLH who underwent genetic screening were reviewed. A custom NGS panel was performed to screen seven genes: PRF1, STX11, STXBP2, UNC13D, XIAP, SH2D1A, and RAB27A. Patients with positive genetic mutations were included in the study. Twenty-six patients were screened, and 12 (46

BACKGROUND:The purpose of this research is to study the neurological consequences of infantile vitamin B12 deficiency on the developing brain. METHODS:A prospective cohort study was done in consecutive children with Infantile B12 deficiency. Clinical evaluation, developmental assessment, blood investigations, and a magnetic resonance imaging (MRI) of the brain were performed at baseline and after therapy with injectable vitamin B12. RESULTS:Among 141 children (median age-13 months), developmental delay was observed in 131 (93%), and 79 (56%) had regression. Eighty (57%) babies had head circumference of < -2 Z score. At baseline, the MRI of the brain was abnormal in 137 (97.2%), showing thinning of corpus callosum (n = 133, 94.3%), cerebral cortical atrophy (n = 128, 90.8%), cerebellar atrophy (n = 126, 89.4%), atrophy of midbrain (n = 81, 57.4%) and pons (n = 78, 55.3%). A follow-up MRI done in 98 (69.5%) showed 66 (67%) had one or more residual abnormalities. The baseline full-scale developmental quotient was 22 (interquartile range: 13-30), while the follow-up full-scale developmental quotient score was 47.5 (interquartile range: 42.5-55). Seventy-nine (67.5%) had a follow-up developmental quotient of less than 50, implying moderate to severe developmental retardation. CONCLUSIONS:Despite therapy, children affected by the infantile B12 deficiency syndrome have significant lasting effects on the brain, evident as poor head growth, developmental deficits, and residual brain imaging changes.

Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative option for aplastic anemia (AA), especially in younger patients with matched sibling donors (MSD). However, in low-resource settings, delayed access to HSCT and pre-transplant complications can adversely impact outcomes. This study evaluates long-term survival and key prognostic factors in AA patients undergoing HSCT at a single tertiary center in North India. A total of 54 patients who underwent hematopoietic stem cell transplantation (HSCT) between 2007 and 2024 for either immune-mediated or inherited aplastic anemia were retrospectively analyzed. Of these, 90.7

Abstract: BACKGROUND: Neonatal alloimmune thrombocytopenia (NAIT) results due to the human platelet antigen (HPA) incompatibility between the mother and the fetus, which in turn leads to maternal alloimmunization against fetal platelet antigen. In view of the lack of a defined protocol for its diagnosis and management, it is important to identify at-risk patients with the help of new noninvasive methods and prevent fetal complications. AIM: The aim of our study was to evaluate the suspected cases of NAIT so as to determine its prevalence and formulate an appropriate algorithm for its diagnosis and management in our setup. MATERIALS AND METHODS: Thrombocytopenic neonates from neonatal services were included in the study between May 2018 and March 2020. An algorithm was designed to evaluate the suspected cases of NAIT, which involved the clinical assessment of the neonate and maternal HPA antibody screening and compatibility test with the neonatal platelet antigens by maternal serum on a solid phase red cell adherence assay system by Immucor, Norcoss A, USA. In addition, genotypic analysis was done to find out the implicated HPA antigens present in the neonate, causing NAIT. The genotypic assessment was done using the Link Seq HPA Typing Kit, by One Lambda, and real-time polymerase chain reaction. RESULTS: Out of 6237 neonates screened for eligibility, we found 1143 neonates to be thrombocytopenic. Out of 1143 thrombocytopenic neonates, we diagnosed NAIT in 10 neonates, giving a prevalence of 0.8% in thrombocytopenic neonates and 0.16% in the total enrolled neonates. CONCLUSION: The prevalence of NAIT in neonates with thrombocytopenia was 0.8%, and 0.16% in the total admitted neonates. HPA-3b, Hpa-9b and HPA-15b were found to be the most commonly implicated antigens leading to thrombocytopenia in the neonates, in our population

Acquired thiopurine resistance and mismatch repair (MMR) deficiency are increasingly recognised drivers of relapse in paediatric B-cell acute lymphoblastic leukaemia (B-ALL); however, their real-world genomic prevalence and link to maintenance dosing patterns remain poorly characterised. Paediatric B-ALL relapse cases (2018-2024) were subjected to whole exome sequencing (WES; 200-250× depth; n = 70) and deep targeted sequencing (700-900×; n = 5). Per-sample frequencies of resistance gene mutations, single-base mutational signatures, tumour mutational burden-high (≥10 mutations/Mb), microsatellite instability-high (MSI-H) and thiopurine S-methyltransferase (TPMT)/nucleoside diphosphate-linked moiety X-type motif 15 (NUDT15) status were determined. Clinical variables included the median weekly 6-mercaptopurine (6-MP) dose (mg/m2, time-weighted) and duration of 6-MP dose interruptions. A total of 18/75 (24%) relapse cases showed SBS87 (thiopurine-related), SBS6/15 (MMR-related) or Thio-deficient mismatch repair (Thio-dMMR) mutational signature. Thiopurine resistance clones in cytosolic 5'-nucleotidase II (NT5C2) (13), phosphoribosyl pyrophosphate synthetase 1 (PRPS1) (2) or tumor protein p53 (TP53) (7) were noted in 19/75 (25%) cases; germline or somatic clones in MMR genes were noted in 19/75 (25%). Correlation analysis revealed that both low median weekly 6-MP dose (<45 mg/m2) and ≥4 weeks of dose interruptions were significantly associated with higher hazard for SBS87 or Thio-dMMR signature (hazard ratio [HR] 7.09 [95% confidence interval (CI): 1.77-28.34], p = 0.006, and HR 6.21 [95% CI: 1.66-23.32], p = 0.007 respectively). This real-world study demonstrates that suboptimal median 6-MP dosing and prolonged dose interruptions during maintenance are significantly associated with thiopurine resistance and MMR deficiency-related mutational signatures at relapse. These findings underscore the importance of optimised dose intensity and minimal interruptions during maintenance therapy in paediatric B-ALL.

BACKGROUND:Conventional multi-time point monitoring during high-dose methotrexate (HD-MTX) therapy is often impractical in low- and middle-income countries (LMICs). A simplified single-time-point monitoring strategy may offer a feasible alternative. OBJECTIVES:To determine the proportion of patients achieving adequate MTX clearance (≤0.4 µmol/L) at 48 h following initiation of HD-MTX. METHODOLOGY:In this prospective observational study, children with high-risk B-lineage and T-cell acute lymphoblastic leukemia receiving HD-MTX were enrolled. Single time point MTX levels were measured 48 h from initiation of infusion. MTX level >0.4 µmol/L received intensified hydration and leucovorin rescue. Toxicities were graded according to Common Terminology Criteria for Adverse Events (CTCAE) version 5.0. Patients with pre-existing renal insufficiency or prior Grades 3 and 4 MTX toxicity were excluded. RESULTS:Thirty-two children (age 2-12 years) undergoing 106 cycles of HD-MTX were evaluated. MTX clearance at 48 h was achieved in 74.5% (79/106). Delayed clearance normalized at 72 h in 5/16 retested cycles. Age >7 years (p = 0.025) and higher baseline serum creatinine (p = 0.022) predicted delayed clearance. Elevated 48-h levels correlated with neutropenia (13%, p = 0.0096), transaminitis, mucositis, and acute kidney injury occurred in 10.4%, 7.5%, and 3.8% of cycles. CONCLUSIONS:A single 48-h MTX level can facilitate discharge decisions in approximately 75% of treatment cycles in a preselected cohort of patients. This approach may provide a pragmatic and cost-effective strategy in resource-limited settings, though its safety in unselected populations remains to be established. Validation in larger, unselected cohorts is needed before broad implementation can be recommended.

Background VEXAS syndrome is a recently recognized, acquired monogenic adult onset hemato-inflammatory syndrome characterized by somatic mutations within the UBA1 gene. The acronym VEXAS stands for vacuoles, E1 enzyme, X-linked inheritance, autoinflammatory tendencies, and somatic mutations. It presents as a severe progressive disease displaying varied characteristics that bridge hematologic and rheumatologic domains. Herein, we describe a series with a detailed evaluation of 11 cases of VEXAS syndrome. Materials and methods A comprehensive retrospective analysis of patients diagnosed with VEXAS syndrome over the last 5 years (2020-2025) was conducted. Data on clinical presentation, histopathological findings, genetic characteristics, and outcomes were recorded for systematic characterization. Results A total of 11 cases of VEXAS syndrome were identified. All the patients were males with an age range from 42 to 77 years. Prominent clinical characteristics included history of fever (11), arthritis/arthralgia (10), inflammatory skin lesions (7), vasculitis (6), ocular inflammatory conditions (6), relapsing polychondritis (6), unprovoked venous thrombosis (5), and auricular chondritis (4). Persistent unexplained cytopenia was present in all the patients, manifesting as anemia (10, 8 of which were macrocytic), thrombocytopenia (4), and neutropenia (2). Bone marrow examination was performed in nine cases, five showed morphologic dysplasia. Furthermore, all nine cases characteristically showed cytoplasmic vacuolations in hematopoietic precursors. UBA1 somatic mutations included p.Met41Thr (c.122 T>C Exon 3) (55%), p.Met41Val (c.121 A>G Exon 3) (27%), p.Met41Leu (c.121 A>C Exon 3) (9%), and a variant in the acceptor splice site of Exon 3 (c.118 G>C) (9%). p.Met41Val is associated with inferior overall survival (OS). Conclusion This study characterizes the clinical, morphologic, and laboratory features of VEXAS syndrome and presents the first comprehensive patient cohort from India. With a complex and heterogeneous clinical profile, awareness of the disease is particularly essential among hematologists, rheumatologists, and dermatologists for accurate diagnosis and management.

TP53 isoforms produced by alternate splicing and promoter usage are shown to play a role in pathogenesis, chemoresistance and relapse in various cancers. Our present study focused on analyzing the expression of different TP53 isoforms in pediatric B cell acute lymphoblastic leukemia (B-ALL). We performed the transcriptomic analysis of TP53 isoforms expression in publicly available datasets followed by RT-qPCR in our cohort of pediatric B-ALL and correlated with various clinical and hematological parameters. Transcriptomic data on B-ALL available online showed overexpression of p53α in B-ALL cases at diagnosis while Δ40p53, p53β and Δ133p53 were downregulated in cases at relapse. In our cohort data (n = 99) at diagnosis, we found the upregulation of the long isoform p53α in 65.65

India bears a high burden of thalassemia, underscoring the need for enhanced awareness, systematic screening, and standardized, high-quality care. In the absence of indigenous guidelines, gaps remain in knowledge and care delivery. To address this, the Pediatric Hematology Oncology Chapter of the Indian Academy of Pediatrics (IAP-PHO) is issuing evidence-based regional guidelines tailored to the Indian context. The primary objective of these guidelines is to establish nationally accepted standards for the diagnosis, comprehensive management, and prevention of thalassemia syndromes, incorporating the latest and locally relevant evidence. These evidence-based guidelines were developed through structured deliberations by 67 national experts under the IAP-PHO, incorporating iterative literature review, expert consensus, and context-specific considerations for India. The evidence quality (levels A-D, X) and strength of recommendation (strong, moderate, weak) are graded using the updated American Academy of Pediatrics framework. These guidelines provide a comprehensive, evidence-based framework for thalassemia care in India, encompassing prevention, diagnosis, transfusion and chelation, complication management, curative therapies and systems-based care, including day-care services and transition to adult care. Regular transfusion therapy with leukodepleted packed red cells to maintain pre-transfusion hemoglobin of 9.5–10.5 g/dL is the cornerstone of management in transfusion-dependent thalassemia (TDT), with individualized adjustment in special situations such as cardiac dysfunction. Iron chelation therapy should be initiated after 10–20 transfusions or when serum ferritin (SF) exceeds 1000 ng/mL; oral deferasirox is the preferred first-line agent. Combination therapy using deferasirox, and/or deferiprone and/or desferrioxamine is recommended when monotherapy with either deferasirox or deferiprone fails to reduce SF to < 2500 ng/mL or in the case of poor tolerance to one agent or when there is evidence of significant organ iron overload on T2*MRI (magnetic resonance imaging); de-escalation of chelation is recommended when SF approaches < 500 ng/mL. Comprehensive multidisciplinary care, incorporating systematic screening and timely interventions for cardiac, hepatic, endocrine, and skeletal complications, is strongly recommended. Early counseling for hematopoietic stem cell transplantation (HSCT) should be offered at diagnosis, with transplantation preferably performed at a younger age. Universal antenatal screening, cascade screening, and access to prenatal diagnosis, are critical to reducing disease burden. Emerging disease-modifying therapies may be considered in selected patients, with evolving pediatric data. Delivery of care through dedicated thalassemia day-care centers and structured transition to adult services is recommended to ensure continuity of care and best quality of life.

Distinguishing immune-mediated aplastic anaemia (AA) from inherited bone marrow failure syndromes (IBMFS) is critical but challenging. The diagnostic value of paroxysmal nocturnal haemoglobinuria (PNH) clones in this context remains uncertain. We prospectively studied 222 AA patients (median-age 21.5 years, range 0.8–67) who underwent high-sensitivity PNH flow-cytometry (≥0.01%) and next-generation sequencing. Patients were classified as Category 1 (pathogenic/likely pathogenic variants fully explaining phenotype; confirmed IBMFS), Category 2 (single heterozygous variants), Categories 3/4 (variants of uncertain significance or no variants). PNH clones ≥0.01% were detected in 124/222 (55.9%), ≥1% in 73/222 (32.9%), and ≥10% in 27/222 (12.2%). Category 1 IBMFS was identified in 17/222 (7.7%). Among Category 1 patients, only 1/17 (5.9%) had clones ≥1%, and, critically, none had clones ≥10%. At the ≥1% threshold, PNH detection showed 94.1% specificity and 98.3% positive predictive value against IBMFS (odds ratio 9.2, p=0.013). Category 2 patients (15/222, 6.8%) demonstrated PNH frequencies (40.0% at ≥1%) indistinguishable from those of acquired AA (36.4%; p=0.785), supporting an immune-mediated disease mechanism on a genetically permissive background. In this comprehensive single-centre cohort, PNH clones ≥1% demonstrated high specificity (94.1%) and positive predictive value (98.3%) for immune-mediated disease. Notably, heterozygous germline carriers exhibited PNH clone distributions indistinguishable from those in acquired AA. These findings warrant validation in larger multicentre cohorts to establish generalisable diagnostic thresholds.

Background:Genotype-3 HCV cirrhosis is a major risk for hepatocellular carcinoma (HCC). We assessed DAA treatment-related SVR rates, and HCC characteristics and outcomes in a prospective, predominantly genotype-3 compensated cirrhosis cohort participating in the National Viral Hepatitis Control Programme (NVHCP) for HCV elimination in India. Methods:Viremic HCV-related HCC diagnosed at presentation and within 6 months (pre-DAAs), and those with post-SVR-12 HCC (post-DAAs) between 15 October 2018 and 31 December 2024, were evaluated. Results:Among 51,865 HCV patients, 4646 had compensated cirrhosis, 652 had HCC, of whom 399 were treated at the hub. 368/399 (92.2%) at presentation had viremic HCV-cirrhosis related HCC (aged 61.5 ± 10.5 years, 65.2% men, 77.8% genotype-3, median ALBI -2.0, with presentation in BCLC stages A (26.1%), B (25.3%), C (12.8%), and D (35.9%), 16% had portal vein thrombosis while 31 (7.8%) did not have cirrhosis. Ultimate SVR-12 after one or more DAAs courses was in 360/368 (97.8%) in HCV-cirrhosis with HCC(at presentation) and in 3874/3994 (96.9%; P = 0.366) with HCV-cirrhosis without HCC. De novo HCC post SVR-12 was in 128/3994 (3.2%), median follow-up of 4 years, an incidence of 985 per 100,000 person-years; aged 57.6 ± 8.6 years, 77.3% men, 71.6% genotype-3, BCLC stages were A (60.2%), B (28.9%), and C (10.9%). Liver stiffness at SVR-48 (aHR 1.01, 95% CI: 1.001-1.030, P = 0.021) and ALBI score at SVR-12 (aHR 1.31, 95% CI: 1.1-1.4, P = 0.034) independently predicted de novo HCC. The recurrence rate was lower in patients with de novo HCC than in those with HCC at presentation (2.2 vs 17.6 per 100 person-years). 27 (21.1%) died, 4 (3.1%) underwent transplantation. Conclusion:DAAs achieved an SVR-12 rate exceeding 95% in genotype-3 predominant HCV-compensated cirrhosis, with and without HCC. Incidence of de novo HCC post SVR-12 was 985 per 100,000 person-years, and 60% had BCLC Stage A. Post-SVR LSM and ALBI score predicted risk of HCC. Our data argue for mandatory HCC surveillance under the NVHCP for all patients with HCV-cirrhosis in India.

High‑dose methotrexate (HD‑MTX) is a cornerstone of pediatric acute lymphoblastic leukaemia (ALL) therapy. However, deviations from protocol-mandated infusion durations need regular monitoring as part of standard quality care. Hence, an observational quality assessment study was planned with a secondary objective to evaluate the acute toxicity in patients who did not receive the infusion within the recommended time period. This study enrolled 42 children (75 cycles) who received HD-MTX (3–5 g/m2 over 24 h) according to the ICiCLe ALL-14 protocol. The actual infusion duration was recorded, and 48-h MTX levels were measured using an enzyme-multiplied immunoassay technique. Toxicity was graded via CTCAE v5.0. Only 35

The dysregulation of m6A-related genes recognized as 'writers', 'readers', and 'erasers' is reported to be involved in the initiation, progression, and drug resistance of acute myeloid leukemia (AML). In the present study, we investigated the expression levels of various readers, writers, and erasers in pediatric AML patients. Additionally, we categorized the patients according to the molecular subtyping of common mutations and recurrent fusions and correlated the expression of m6A-associated genes with different molecular subtypes and evaluated their prognostic and clinical implications. A total of fifty-seven patients with pediatric de novo AML were enrolled in the study. The study cohort consisted of 41 males and 16 females with a median age of 7 years (range 1 to 12 years). A high expression of m6A RNA modification complex genes was noted in AML patients. Among the writers, METTL3 and METTL14 were found to be upregulated in 19 and 17 patients, the readers YTHDF1 and YTHDF2 showed higher expression in 6 and 10 patients, while a high expression of erasers FTO and ALKBH5 was found in 28 patients and 1 patient, respectively. Further, the expression of m6A regulators showed a significant association with genetic alterations including FLT3-ITD, RBM15::MKL fusions and NPM1 mutations. Additionally, while evaluating the prognostic implications, both the readers YTHDF1 and YTHDF2 showed a significant correlation with TLC at diagnosis (p < 0.05). Further, Kaplan-Meier estimation showed a poor event-free survival in cases with the overexpression of YTHDF1 (log-rank p = 0.028). Additionally, we noted a strong correlation between YTHDF1 overexpression and treatment-related mortality (log-rank p < 0.001), and a nearly significant correlation with YTHDF2 expression in such patients (log-rank p = 0.053) at a median follow-up of 8 months. Thus, our data suggest that m6A genes, especially readers YTHDF1 and YTHDF2, are involved in the disease prognosis of AML and probably function in an integrated manner with other m6A-modifying genes to subsequently play a role in AML pathogenesis.

The VEXAS syndrome is a recently recognized, acquired monogenic adult onset haemato-inflammatory syndrome defined by somatic mutations within the UBA1 gene. It is an acronym that stands for vacuoles, E1 enzyme, X-linked inheritance, autoinflammatory tendencies, and somatic mutations. It presents as a severe progressive disease displaying varied characteristics that bridge hematologic and rheumatologic domains. In this series, we describe nine cases of VEXAS syndrome diagnosed at our institute, marking the first report from the Indian Subcontinent. A comprehensive analysis was conducted on patients diagnosed over the past 4 years (2020–2024), documenting clinical presentations, pathological findings, genetic characteristics, and outcomes. The UBA1 gene region(Exons 2-3 and intervening intron) was amplified by PCR and sequenced bidirectionally using Big Dye terminator v1.1 kit (Applied Biosystems); sequencing was performed on the Spectrum Compact Capillary Electrophoresis System (Promega). A total of nine cases were identified from 53 patient blood samples sent to our institute for UBA1 gene mutation testing with clinical suspicion of VEXAS (9/53,16.9%). All the patients were males with an age range from 42-77 years. Prominent clinical characteristics noted were a history of fever (9), arthritis/ arthralgia (8), inflammatory skin lesions (5), vasculitis (4), ocular inflammatory conditions (5), relapsing polychondritis (5), unprovoked venous thrombosis (3) and ear chondritis (3). Persistent unexplained cytopenia was present in all the patients, manifesting as anemia (8, 6 of which were macrocytic), thrombocytopenia (3), and neutropenia (2). We documented three cases of VEXAS coexisting with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and monoclonal gammopathy (MGUS), with the SLE-associated case being the first reported in the literature. Bone marrow examination was performed on seven patients, all exhibiting dyshematopoietic features(100%). Further, all seven cases also showed cytoplasmic vacuolations in the hematopoietic precursors. UBA1 somatic mutations included p.Met41Thr (c. 122 T>C Exon 2) (67%), p.Met41Val (c.121 A>G Exon 2) (22%) and a rare variant of UBA1 mutation in acceptor splice site of Exon 3 (c. 118 G>C) (11%). Follow-up ranged from 12 to 120 months, with a mean overall survival (OS) of 35.6 months and 4 cases succumbed to the disease. On Kaplan–Meier analysis, p.Met41Val cases have significantly inferior OS, with the mean OS of 17 (95% CI 7.2–27.8) months; in p.Met41Thr cases, the OS was 100.8 (95% CI 53.2–148.4) months (p = 0.006). The clinicopathological features of our cohort align closely with the available literature. However, our study is unique in highlighting the need to consider VEXAS syndrome even in patients with SLE and RA. Additionally, we have reported a rare variant of UBA1 mutation, further contributing to the expanding genetic spectrum of the disease and emphasizing the necessity of aggressive treatment for cases with p.Met41Val mutation, given their poor prognosis.