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Evans syndrome (ES) is a rare disorder characterized by autoimmune cytopenias affecting multiple blood cell lineages. In children, management remains particularly challenging due to the absence of clear guidelines for acute treatment and escalation to second-line therapies. We conducted a retrospective, longitudinal study (2010-2024) including pediatric patients (<18 years) with ES to identify predictors of severe presentation, need for second-line therapy, and fatal outcome. Predictors were identified using Cox Regression. Fifty patients were included (sequential = 27, concomitant = 23), with a median age at diagnosis of 4.1 years (IQR:1.5–8.5). Secondary ES was observed in 41(82%) cases, among which 38 (76%) had IEI. Severe clinical presentation at diagnosis occurred in 50% of patients and was independently associated with age < 24months and hemoglobin level < 80g/L. Corticosteroid dependence was observed in 34 cases (68%), with second-line therapy required in 31 patients (62%, cumulative risk=88%). This was associated with the presence of hepatomegaly and abnormal IgM levels. At last follow-up, 38(76%) patients were in remission and 19(38%) had relapsed. Fatal outcome (8 patients) was associated with age < 24 months at diagnosis (p=0.04), family history of IEI (p=10 -3 ), splenomegaly (p=0.02), and hepatomegaly (p=0.05). Pediatric ES is therefore a severe condition particularly in infants. Outcomes are strongly influenced by underlying immune dysregulation, highlighting the need for early etiological evaluation to guide timely and appropriate therapeutic strategies including the early use of targeted or curative approaches.

Sideroblastic anemias (SAs) represent a heterogeneous group of rare hematological disorders characterized by iron accumulation in mitochondria of erythroblasts with ineffective erythropoiesis. SAs are categorized into acquired and congenital forms. Acquired, secondary, and clonal, SA is rare in pediatric populations. Congenital SA (CSA) is classified into syndromic and non-syndromic forms. Herein, we describe three cases of pediatric patients with SA. The diagnosis of SA was based on the presence of type 3 sideroblasts on BM aspirate smear (greater than 15%) and genetic tests. In the first case, the diagnosis of myelodysplastic syndrome with ring sideroblasts (MDS-RS) with somatic SF3B1 mutation was made at the age of 11 years. A whole exome sequencing did not reveal any germinal predisposition for MDS. A wait-and-see strategy was adopted. After one year- of follow-up, no blood transfusion was needed and no further cytopenia occurred. The two other children had presented anemia at an early age and were diagnosed with CSA. The first case was a girl with SCL25A38 gene mutation. For the second one, the diagnosis of aminolevulinic acid synthase 2 deficiency was considered the most plausible given the family history and the favourable response to pyridoxine. Iron overload occurred in both patients with CSA, requiring chelation therapy. In conclusion, Perls' stain remains a valuable tool for guiding the diagnosis of unexplained anemia in pediatric patients. Genetic testing is crucial for the characterization of congenital sideroblastic anemias. The incidence of myeloid neoplasms with ring sideroblasts is exceptional in children, and the long-term prognosis remains undefined.

IntroductionThis study aimed to assess osteoarticular manifestations in patients with common variable immunodeficiency (CIVD) and to identify the predictive factors.MethodsThis was a retrospective and prognostic study conducted in the pediatrics: immuno-hematology and stem cell transplantation department, including patients who fit the definition of CVID. A Cox model analysis was used to identify predictive factors.ResultsA total of 36 patients were enrolled. Osteoarticular involvement was noted in 15 patients (42%) with a cumulative incidence of 90% after a median follow-up of 25 years. Non-infectious manifestations were reported in 14 patients (39%). The cumulative risk of inflammatory or autoimmune osteoarticular etiology was 74%. Well-characterized rheumatic diseases were retained in six patients and unlabeled autoimmune or inflammatory mechanism in five cases. Bone mineral density revealed osteoporosis in six cases leading to a cumulative risk of degenerative complications of 72%. The cumulative incidence of infectious complications was 17%. In multivariate analysis, predictors of osteoarticular complications were low body weight (HR = 8.67, CI: 1.496–50.278, p = 0.01) and hepatomegaly at diagnosis (HR = 6.2, CI: 1.537–25.075, p = 0.01). Reduced CD4 cells rate < 600 cells/mm3 and hepatomegaly were predictors of autoimmune or inflammatory complications, while chronic diarrhea and iron deficiency were associated with degenerative manifestations.ConclusionsOsteoarticular manifestations have emerged as a real health problem for CVID patients. Risk increases with low body weight, hepatomegaly, chronic diarrhea, iron deficiency, and CD4 cells rate under 600 cell/mm3. Elucidating the mechanisms of these complications in CVID is important for developing preventive strategies.Key Points• This retrospective and prognostic study described the clinical characteristics of osteoarticular manifestations in 36 patients with CVID to ensure better recognition and understanding of this association by clinicians.• Identification of predictive factors of osteoarticular complications according to its etiology is crucial to establish appropriate, optimal and early management of patients at risk.