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- W2891632783 abstract "Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease characterized by microcephaly, growth retardation, severe immunodeficiency, and predisposition to lymphoid malignancy. In this report, we describe a case of a 9-year-old boy, previously diagnosed with NBS and symptoms of dyspnea, dry cough, and fever. Despite initial recognition of pneumonia, there was no response to broad spectrum antimicrobial treatment, negative results from microbiological tests, and unclear changes in lung imaging were observed. Therefore, further diagnostics were focused on suspected lymphoid malignancy and involved lung biopsy. Unexpectedly, histopathological examination revealed noncaseating granulomas. The introduction of systemic steroids resulted in significant improvement of the patient’s clinical condition. This is the first description of primary pulmonary noncaseating granulomas without nodular involvement in a child with NBS." @default.
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- W2891632783 date "2018-10-01" @default.
- W2891632783 modified "2023-10-13" @default.
- W2891632783 title "Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas" @default.
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- W2891632783 doi "https://doi.org/10.1542/peds.2018-0122" @default.
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