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Article

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Journal of medical genetics - 1 May 2011

Sieni Elena, Cetica Valentina, Santoro Alessandra, Beutel Karin, Mastrodicasa Elena, Meeths Marie, Ciambotti Benedetta, Brugnolo Francesca, zur Stadt Udo, Pende Daniela, Moretta Lorenzo, Griffiths Gillian M, Henter Jan-Inge, Janka Gritta, Aricò Maurizio

Abstract excerpt

BACKGROUND: Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898). OBJECTIVE: To carry out a genotype-phenotype study of patients with FHL3. METHODS: A consortium of three countries pooled data on presenting features and mutations from individual patients with biallelic UNC13D mutations in a common database. RESULTS: 84 patients with FHL3 (median age 4.1...

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Source

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Identifiers

PMID: 21248318
DOI: 10.1136/jmg.2010.085456
PMCID: PMC4115201

Genes

FHL3
FHL2

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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