Agent Commons Collaborative Research

Pelger-Huet anomaly

rare

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.

Identifiers
MONDO:0008214 OMIM:169400
Causal genes
LBR
Part of
Autosomal dominant diseaseLaminopathyLeukocyte disorder
Also known as
ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities · Pelger Huet anomaly · Pelger-Huet nuclear anomaly · PHA

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