{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:01:11Z","timestamp":1753887671259,"version":"3.41.2"},"reference-count":22,"publisher":"American Academy of Pediatrics (AAP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,1]]},"abstract":"<jats:p>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\u2019s clinical condition. This is the first description of primary pulmonary noncaseating granulomas without nodular involvement in a child with NBS.<\/jats:p>","DOI":"10.1542\/peds.2018-0122","type":"journal-article","created":{"date-parts":[[2018,9,12]],"date-time":"2018-09-12T07:25:33Z","timestamp":1536737133000},"source":"Crossref","is-referenced-by-count":7,"title":["Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas"],"prefix":"10.1542","volume":"142","author":[{"given":"Honorata","family":"Marczak","sequence":"first","affiliation":[{"name":"Departments of Pulmonology and Allergy and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edyta","family":"Heropolita\u0144ska-Pliszka","sequence":"additional","affiliation":[{"name":"Department of Immunology, The Children\u2019s Memorial Health Institute, Warsaw, Poland; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Langfort","sequence":"additional","affiliation":[{"name":"Department of Pathology, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danuta","family":"Roik","sequence":"additional","affiliation":[{"name":"Pediatric Radiology, Medical University of Warsaw, Warsaw, Poland;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Grzela","sequence":"additional","affiliation":[{"name":"Departments of Pulmonology and Allergy and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2018,10,1]]},"reference":[{"key":"2021121021340049100_B1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-7-13","article-title":"Nijmegen breakage syndrome (NBS).","volume":"7","author":"Chrzanowska","year":"2012","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"2021121021340049100_B2","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1111\/j.1525-1470.2010.01140.x","article-title":"Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome.","volume":"27","author":"Vogel","year":"2010","journal-title":"Pediatr Dermatol"},{"issue":"3","key":"2021121021340049100_B3","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1001\/archderm.144.3.418","article-title":"Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome.","volume":"144","author":"Yoo","year":"2008","journal-title":"Arch Dermatol"},{"issue":"6","key":"2021121021340049100_B4","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1007\/s10875-015-0186-9","article-title":"Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options - 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