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Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defects in the genes encoding any of the NADPH oxidase components responsible for the respiratory burst of phagocytic leukocytes. CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB gene encoding the gp91(phox)… (More)
Chronic granulomatous disease is a rare primary immunodeficiency caused by phagocytic cell defect. We describe the case of 43-month-old boy with chronic granulomatous disease presenting with Salmonella spp brain abscesses, together with a review of the 13 cases reported in the literature.
The aim of the present study is the exploration of the compensation mechanisms in healthy adults elicited by superimposing a horizontal perturbation, through a rotation of the support base, during a whole body active rotation around the participant's own vertical body axis. Eight healthy participants stood on a rotating platform while executing 90° whole… (More)
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the humoral compartment, due to a mutation in the Bruton tyrosine kinase (BTK) gene, characterized by a severe defect of circulating B cells and serum immunoglobulins. Recurrent infections are the main clinical manifestations; although they are especially due to encapsulated bacteria, a… (More)
Familial hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition characterized by immune hyperactivation and clinical signs of extreme inflammation. We describe a 7-year-old male who presented with fever resistant to antibiotic therapy, pancytopenia, splenomegaly, hypertriglyceridemia, and hyperferritinemia. Bone marrow aspirate… (More)