: MeSH: Pelger-Huet Anomaly

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Pelger-Huet Anomaly

Hemic and Lymphatic Diseases > Hematologic Diseases > Leukocyte Disorders > Pelger-Huet Anomaly

Pelger-Huet Anomaly

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures. GRANULOCYTE morphologic changes similar to the cells in familial Pelger-Huet anomoly. Granulocytes have abnormal bilobular morphology with hypercondensation due to drug therapy or secondary to diseases such as MYELODYSPLASTIC SYNDROMES and ACUTE MYELOID LEUKEMIA.

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities
Pelger-Huët Anomaly
Pelger-Huet Nuclear Anomaly
Pelger-Huët Nuclear Anomaly

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