The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay.

Hematological malignancies (HM) developed on underlying primary immunodeficiencies (PID) are rare and of unusual features. Differentiating between malignant and non-malignant lymphoproliferation in cases of pediatric hematology and oncology and revealing their molecular predisposition demonstrate the complex interplay between PID and HM. We retrospectively studied a case series of seven pediatric patients, all with PID with manifestations raising suspicion for HM or hypereosinophilic syndrome (HES) or confirmed HM of lymphoid origin. Combined immunodeficiency (CID) without detection of a known mutated gene or with ataxia-telangiectasia (AT), STAT3 gain of function (GOF), DOCK8 deficiency, and CTLA4 deficiency were diagnosed in three, one, one, one, and one patient, respectively. Acute lymphoblastic leukemia and Hodgkin lymphoma followed by second primary Burkitt lymphoma were diagnosed in one patient with CID each, while lymphomatoid granulomatosis in one patient with AT. Lymphoproliferative disease occurred in STAT3 GOF, CTLA4 deficiency and CID, one patient each, and idiopathic HES in DOCK8 deficiency (median age at presentation of PID or any hematological manifestation: four years). Four patients underwent hematopoietic cell transplantation (HCT) for STAT3 GOF, DOCK8 deficiency and CID in one, one, and two cases, respectively (median age: 10 years). At the last follow-up, all transplanted patients were alive. Reporting on patients' phenotype, genotype and course of disease shed light on the prevalence, characteristics, and pathophysiology of HM complicating PID. Discriminating the non-yet malignant lymphoproliferation from its malignant equivalent on the same pathophysiology background proved of additional value. Outcomes of PID after HCT, herein reported, are favorable.

The double burden of obesity and iron deficiency on children and adolescents in Greece: the Healthy Growth Study.

BACKGROUND: Some small cohort studies have noted that obesity co-exists with lower serum iron levels. The present study aimed to examine the association between being overweight and iron deficiency (ID) in a large cohort of Greek children and adolescents. METHODS: A representative sample of 2492 primary schoolchildren aged 9-13 years old was examined. Anthropometric, biochemical, clinical, dietary intake and physical activity data were collected. RESULTS: The prevalence of ID and iron deficiency anaemia (IDA) was higher in obese boys and girls compared to their normal-weight peers (P < 0.05). Serum ferritin was higher in obese compared to normal-weight boys (P = 0.024) and higher in obese compared to normal-weight and overweight girls (P = 0.001). By contrast, a negative association was found between transferrin saturation and adiposity in both boys and girls (P = 0.001 and P = 0.005). Furthermore, obese girls had significantly higher fibre intake than normal-weight girls (P = 0.048) and also overweight and obese boys and girls recorded significantly fewer pedometer steps than their normal-weight peers (P < 0.001). Finally, obesity more than doubled the likelihood of ID in both boys (odds ratio = 2.83; 95% confidence inteval = 1.65-4.85) and girls (odds ratio = 2.03; 95% confidence interval = 1.08-3.81) after controlling for certain lifestyle and clinical indices as potential confounders. CONCLUSIONS: The present study shows that obese children and adolescents were at greater risk for ID and IDA than their normal-weight peers. Low grade inflammation induced by excessive adiposity may be a reason for the observed low iron levels. This is also strengthened by the elevated serum ferritin levels, comprising an acute phase protein that is plausibly increased in inflammation.