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Article

Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.

Journal of pediatric hematology/oncology - 1 Nov 2020

Sato Hiroko, Kawasaki Naomi, Kawasaki Motoi, Abiko Yu, Meguro Toru, Takahashi Noriyuki, Izumino Hiroko, Kanno Miyako, Numakura Chikahiko, Sasaki Ayako, Imamura Toshihiko, Taki Tomohiko, Mitsui Tetsuo

Abstract excerpt

We have experienced 3 consecutive cases of familial hemophagocytic lymphohistiocytosis (FHL). All affected infants had mutations in exon 3 of the perforin gene. The first had a homozygous mutation, c.1168C>T (p.R390*), caused by maternal uniparental isodisomy. The second and third had compound heterozygous mutations: c.781G>A (p.E261K) and c.1491T>A (p.C497*); c.1724G>T (p.C242G) and p.R390*, respectively. FHL is...

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PMID: 31789783
DOI: 10.1097/MPH.0000000000001681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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