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Article

Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis.

European journal of medical genetics - 1 Jan 2000

Vermeulen Marijn J, de Haas Valerie, Mulder Margot F, Flohil Claudie, Fetter Willem P F, van de Kamp Jiddeke M

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis (FHLH) is a genetic heterogeneous autosomal recessive disorder. We report two siblings with FHLH caused by a PRF1 mutation. The first child died in utero with hydrops fetalis and the second presented soon after birth with fatal multiple organ failure. Post-mortem DNA analysis showed a homozygous c.666C>A (p.His222Gln) mutation in the PRF1 gene in both cases, with their...

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Source

Identifiers

PMID: 19595804
DOI: 10.1016/j.ejmg.2009.07.002

Genes

PRF1

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis.PMID 19595804Read ↗

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