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Article

Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype.

Pediatrics - 1 Oct 2013

Boggio Elena, Aricò Maurizio, Melensi Matteo, Dianzani Irma, Ramenghi Ugo, Dianzani Umberto, Chiocchetti Annalisa

Abstract excerpt

This article presents a case report for a child presenting with mixed clinical features of autoimmune lymphoproliferative syndrome (ALPS), familial hemophagocytic lymphohistiocytosis (FHL), and X-linked lymphoproliferative (XLP) disease. From 6 months, he exhibited splenomegaly and lymphoadenopat...

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Source

Identifiers

PMID: 24043286
DOI: 10.1542/peds.2012-1838

Genes

FAS
XIAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24043286-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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