{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:13:06Z","timestamp":1777882386436,"version":"3.51.4"},"reference-count":21,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome, rarely associated with bone marrow failure (BMF). Telomere biology disorders (TBD) are caused by inherited defects in telomerase processes and can have heterogeneous presentations including idiopathic pulmonary fibrosis, cirrhosis, and BMF. We report a case of a 10-year-old male from Lima, Peru, who presented with HLH as the initial manifestation of a TBD. He experienced fever, gastrointestinal symptoms, and mucocutaneous involvement. Initial laboratory analyses revealed pancytopenia and elevated inflammatory markers. Despite symptomatic and antibiotic treatment, his clinical condition persisted leading to a suspicion of Kawasaki disease and, subsequently, HLH. Immunomodulatory treatment was initiated with a good clinical response. Bone marrow aspiration revealed severe hypocellular bone marrow and cytophagocytosis. Genetic studies identified a pathogenic variant in the TERC gene (n.110_113del), which was also found in the patient\u2019s mother and brother. HLH as the initial manifestation of BMF is rare. This case highlights the importance of considering TBD in children with BMF of unclear etiology and the value of genetic testing in such cases.<\/jats:p>","DOI":"10.1177\/26330040241311621","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T07:56:23Z","timestamp":1736150183000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder"],"prefix":"10.1177","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3086-9279","authenticated-orcid":false,"given":"Daniel","family":"Medina-Neira","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, 490 Edgardo Rebagliati Avenue, Jes\u00fas Mar\u00eda, Lima 15072, Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7266-5808","authenticated-orcid":false,"given":"Giancarlo","family":"Alvarado-Gamarra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru"},{"name":"Instituto de Investigaci\u00f3n Nutricional, Lima, Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-5606-0472","authenticated-orcid":false,"given":"Brenda","family":"Huaman\u00ed-Condori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4773-328X","authenticated-orcid":false,"given":"Nelson","family":"Purizaca-Rosillo","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8283-6669","authenticated-orcid":false,"given":"No\u00e9","family":"Atamari-Anahui","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n para la Generaci\u00f3n y S\u00edntesis de Evidencias en Salud, Vicerrectorado de Investigaci\u00f3n, Universidad San Ignacio de Loyola, Lima, Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erick","family":"Matos-Villena","sequence":"additional","affiliation":[{"name":"Unidad de Hematolog\u00eda Pedi\u00e1trica, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel","family":"Garces-Ghilardi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, Lima, 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