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Article

Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation.

Journal of pediatric hematology/oncology - 1 May 2013

Isoda Takeshi, Mitsuiki Noriko, Ohkawa Teppei, Kaneko Setsuko, Endo Akifumi, Ono Toshiaki, Aoki Yuki, Tomizawa Daisuke, Kajiwara Michiko, Araki Satoshi, Nagasawa Masayuki, Morio Tomohiro, Takagi Masatoshi, Mizutani Shuki

Abstract excerpt

Hematopoietic stem cell transplantation (HSCT) for dyskeratosis congenita (DC) is challenging due to severe treatment-related adverse effects. Development of pulmonary fibrosis or veno-occlusive disease is well described in DC. However, neurological complication after HSCT has not been reported. A 9-year-old Japanese male with DC harboring the TINF2 mutation received reduced-intensity HSCT. Unfortunately, patient...

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Source

Identifiers

PMID: 23242325
DOI: 10.1097/MPH.0b013e318279e5ca

Genes

TINF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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