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- W1995378288 abstract "Abstract Chronic granulomatous disease is a diverse group of hereditary diseases characterized by neutrophils incapacity or difficulty to form reactive oxygen compounds, most important, the superoxide radical, used to kill certain pathogens. The consequence is recurrent infections with germs with normally low pathogenicity and formation of supurative granulomas. The authors present a pathology case of immunodeficiency rarely seen in pediatrics: chronic granulomatous disease in a 2 months old infant. The positive diagnosis was based on clinical presentation, dominated by lymphadenopathy, pemphigoid skin lesions, bilateral ear secretion, growth failure, hepatomegaly. Physical presentation correlated with laboratory studies (Bursttest), chest radiography and CT imaging, moderate inflammatory syndrome, low platelets level and the presence of fibrin monomers suggested a neonatal sepsis having on the background a X-linked immunodeficiency (the patient being the only male survivor in his family, with 4 healthy sisters). The specific feature in this case was early onset of the disease, with clinical, but most important, pulmonary radiological aspect characteristic for chronic granulomatous disease. The prognosis was poor; the baby is readmitted in the hospital after 2 months and he dies, having clinical aspect of sepsis unresponsive to the applied intensive therapy. The histological findings enhanced numerous pulmonary and hepatic microabscesses." @default.
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- W1995378288 date "2012-12-01" @default.
- W1995378288 modified "2023-10-15" @default.
- W1995378288 title "Rare Immunodeficiency In A Two-Months-Old Infant" @default.
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- W1995378288 doi "https://doi.org/10.2478/v10307-012-0004-z" @default.
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