{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T02:56:59Z","timestamp":1781233019992,"version":"3.54.1"},"reference-count":36,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T00:00:00Z","timestamp":1781136000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Ataxia\u2013telangiectasia is a rare, autosomal recessive primary immunodeficiency caused by mutations in the ATM gene on chromosome 11, which encodes a serine\u2013threonine kinase essential for the recognition and repair of DNA double-strand breaks. The disease is characterized by progressive neurological impairment, immunological dysfunction, and an increased susceptibility to recurrent infections and malignancies. Pulmonary involvement represents a major source of morbidity and frequently arises from chronic infections, aspiration, and impaired airway clearance, ultimately leading to the development of bronchiectasis. The case of a 15-year-old adolescent with a history of recurrent aspiration pneumonias, neuropsychomotor developmental delay, and severe malnutrition is reported, who was admitted for evaluation of chronic productive cough, fever, and dysphagia. Comprehensive clinical assessment and ancillary investigations revealed recurrent respiratory infections, gastroesophageal reflux, and typical features of ataxia\u2013telangiectasia, including cerebellar ataxia, oculomotor apraxia, and conjunctival telangiectasias. Additionally, bronchiectasis was identified as a secondary consequence of the underlying neurological and immunological impairment. This case highlights the diagnostic challenges posed by ataxia\u2013telangiectasia in pediatric patients presenting with chronic respiratory symptoms and emphasizes the importance of early recognition of the underlying systemic disorder. A multidisciplinary approach is essential for accurate diagnosis and optimized management, aiming to address both the primary disease and its pulmonary complications.<\/jats:p>","DOI":"10.3390\/jcm15124524","type":"journal-article","created":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T01:52:08Z","timestamp":1781229128000},"page":"4524","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Ataxia\u2013Telangiectasia and Associated Bronchiectasis: Case Report and Literature Review"],"prefix":"10.3390","volume":"15","author":[{"given":"Roxana","family":"Tara\u0219","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Pediatrics, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Dima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihaela","family":"Axente","sequence":"additional","affiliation":[{"name":"Department of Neonatology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3239-0704","authenticated-orcid":false,"given":"Eliza Elena","family":"Cintez\u0103","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Pediatric Cardiology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7427-0191","authenticated-orcid":false,"given":"Chereche\u0219-Pan\u021ba","family":"Paraschiva","sequence":"additional","affiliation":[{"name":"Department of Mother and Child, Discipline Pediatric III, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj Napoca, Romania"},{"name":"Department of Pediatrics, \u201cChildren\u2019s Emergency Clinical Hospital\u201d, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0596-2122","authenticated-orcid":false,"given":"Claudia Lucia","family":"Toma","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Marius Nasta Institute of Pulmonology, 050159 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruxandra","family":"Vidlescu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Pediatric Oncology, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7873-9230","authenticated-orcid":false,"given":"Marcela Daniela","family":"Ionescu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Pediatrics, \u201cM.S. Curie\u201d Emergency Clinical Hospital for Children, 077120 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,11]]},"reference":[{"key":"ref_1","unstructured":"Riboldi, G.M., Samanta, D., Asuncion, R.M.D., and Frucht, S. (2025, September 01). 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