title: Pelger-Huët anomaly: a critical review of the literature.
abstract: Pelger-Huët anomaly (PHA), an autosomal dominant haematological trait is characterised by neutrophil nuclear hypolobulation and modified chromatin distribution. Mutations in the lamin B receptor gene, a member of the sterol reductase family have been identified as the underlying cause. Due to its asymptomatic nature or lack of observer familiarity, PHA is often overlooked. In this review, we give an overview of the main pathophysiological, clinical, morphological and functional aspects of PHA. Furthermore, we highlight the importance of a comprehensive approach to the assessment of this laminopathy.
authors.affiliation: Departments of Internal Medicine, University Hospital Ghent, De Pintelaan 185, Gent, Belgium. Marijn.Speeckaert@UGent.be
authors.forename: M M
authors.initials: MM
authors.lastname: Speeckaert
authors.forename: C
authors.initials: C
authors.lastname: Verhelst
authors.forename: A
authors.initials: A
authors.lastname: Koch
authors.forename: R
authors.initials: R
authors.lastname: Speeckaert
authors.forename: F
authors.initials: F
authors.lastname: Lacquet
mesh_terms: D000818:Animals; D002843:Chromatin / Q000648:ultrastructure; D003937:Diagnosis, Differential; D004195:Disease Models, Animal; D005260:Female; D018703:Founder Effect; D005799:Genes, Dominant; D006801:Humans; D007938:Leukemia / Q000175:diagnosis; D008297:Male; D008322:Mammals / Q000235:genetics; D051379:Mice; D009190:Myelodysplastic Syndromes / Q000175:diagnosis; D009426:Netherlands / Q000453:epidemiology; D009504:Neutrophils / Q000648:ultrastructure; D010381:Pelger-Huet Anomaly / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D018160:Receptors, Cytoplasmic and Nuclear / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D026801:Synteny; D000097682:Lamin B Receptor
chemical_list: D002843:Chromatin; D018160:Receptors, Cytoplasmic and Nuclear; D000097682:Lamin B Receptor