pelger huet anomaly


Summary: 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.

Top Publications

  1. Kalfa T, Zimmerman S, Goodman B, McDonald M, Ware R. Pelger-Huët anomaly in a child with 1q42.3-44 deletion. Pediatr Blood Cancer. 2006;46:645-8 pubmed
    ..Additional features in this child included failure to thrive, developmental delay, cleft palate, seizure disorder, and dysmorphic facial features. ..
  2. Best S, Salvati F, Kallo J, Garner C, Height S, Thein S, et al. Lamin B-receptor mutations in Pelger-Huët anomaly. Br J Haematol. 2003;123:542-4 pubmed
    ..Our results confirm recently published findings that LBR mutations cause Pelger-Huët. ..
  3. Kasbekar D. Benign anomaly to malign dysplasia: variable expression of lamin B receptor mutations in humans. J Biosci. 2004;29:367-8 pubmed
  4. Tomonaga M. [Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology]. Rinsho Byori. 2005;53:54-60 pubmed
    ..We, hematologists and technicians, must be well prepared to report our own observation of an un-explained morphological abnormality. ..
  5. Taegtmeyer A, Halil O, Bell A, Carby M, Cummins D, Banner N. Neutrophil dysplasia (acquired pseudo-pelger anomaly) caused by ganciclovir. Transplantation. 2005;80:127-30 pubmed
    ..The morphologic changes most likely reflected interference of DNA polymerization within bone marrow progenitor cells. The changes resolved completely after the drug was withdrawn. ..
  6. Shultz L, Lyons B, Burzenski L, Gott B, Samuels R, Schweitzer P, et al. Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. Hum Mol Genet. 2003;12:61-9 pubmed
    ..These spontaneous Lbr mutations confirm the molecular basis of human PHA and provide a small animal model for determination of the precise function of LBR in normal and pathological states. ..
  7. Hoffmann K, Dreger C, Olins A, Olins D, Shultz L, Lucke B, et al. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet. 2002;31:410-4 pubmed
    ..Our findings have implications for understanding nuclear envelope-heterochromatin interactions, the pathogenesis of Pelger-like conditions in leukemia, infection and toxic drug reactions, and the evolution of neutrophil nuclear shape. ..
  8. Hoffmann K, Sperling K, Olins A, Olins D. The granulocyte nucleus and lamin B receptor: avoiding the ovoid. Chromosoma. 2007;116:227-35 pubmed
    ..These observations are part of a larger question on the relationships between nuclear shape and cellular function. ..
  9. Oosterwijk J, Mansour S, van Noort G, Waterham H, Hall C, Hennekam R. Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J Med Genet. 2003;40:937-41 pubmed

More Information


  1. Teshima T, Shibuya T, Harada M, Taniguchi S, Nozaki M, Mori T, et al. Effects of G-CSF, GM-CSF, and IL-5 on nuclear segmentation of neutrophils and eosinophils in congenital or acquired Pelger-Huët anomaly. Exp Hematol. 1991;19:322-5 pubmed
    ..These results suggest that G-CSF plays some role in the nuclear development of neutrophils, whereas IL-5 may not have such an effect on eosinophil maturation in the individual cases studied. ..
  2. Latimer K, Kircher I, Lindl P, Dawe D, Brown J. Leukocyte function in Pelger-Huët anomaly of dogs. J Leukoc Biol. 1989;45:301-10 pubmed
    ..These findings indicate that no apparent predisposition to infection or immunodeficiency exists in dogs with P-H anomaly. ..
  3. Valent P, Fonatsch C, Stindl R, Schwarzinger I, Haas O, Sperr W, et al. Normal bone marrow function over 6 years in a patient with dysplastic hematopoiesis and a complex karyotype. Leuk Res. 2004;28:651-5 pubmed
    ..This exceptional case supports the notion that complex chromosomes are not invariably associated with rapid disease evolution in MDS. ..
  4. Yabuki M, Miyake T, Doi Y, Fujiwara T, Hamazaki K, Yoshioka T, et al. Role of nuclear lamins in nuclear segmentation of human neutrophils. Physiol Chem Phys Med NMR. 1999;31:77-84 pubmed
    ..These observations allow us to speculate that remodeling of nuclear lamins might underlie the mechanism for nuclear segmentation of neutrophils. ..
  5. Urbina Guerrero J, Muñoz Quiles I, Linaldi Camacho A. [Pelger-Huët anomaly and hereditary elliptocytosis in 2 siblings]. Bol Med Hosp Infant Mex. 1992;49:454-8 pubmed
    ..Possibly in Mexico this may be the first report of the presentation of the PHA and HE simultaneously in the same individual. ..
  6. Grondin T, Dewitt S, Keeton K. Pelger-Huët anomaly in an Arabian horse. Vet Clin Pathol. 2007;36:306-10 pubmed
    ..This is the second known report of equine Pelger-Huët anomaly, both of which affected Arabian horses. ..
  7. May R, Sunder T. Hematologic manifestations of long-term valproate therapy. Epilepsia. 1993;34:1098-101 pubmed
    ..Hematologic toxicity was never severe enough to discontinue therapy and always responded to small decrements in VPA therapy. VPA was discontinued in only 1 patient, owing to poor seizure control. ..
  8. Mericka O, Lexová V, Smetana K. [The Pelger-Huët anomaly]. Vnitr Lek. 1994;40:770-2 pubmed
    ..It was not possible to reveal whether an inborn or acquired anomaly was involved. Recent knowledge of this problem is discussed. ..
  9. Cunningham J, Patnaik M, Hammerschmidt D, Vercellotti G. Historical perspective and clinical implications of the Pelger-Hüet cell. Am J Hematol. 2009;84:116-9 pubmed publisher
    ..This article relates the history of the Pelger-Huet anomaly as well as describes the clinical significance and diagnostic workup for the finding of a Pelger-Huet cell on peripheral smear. ..
  10. Fugazza G, Bruzzone R, Puppo L, Sessarego M. Granulocytes with segmented nucleus retain normal chromosomes 17 in Philadelphia chromosome-positive chronic myeloid leukemia with i(17q) and pseudo-Pelger anomaly. A case report studied with fluorescence in situ hybridization. Cancer Genet Cytogenet. 1996;90:166-70 pubmed
    ..This finding may also be useful from a clinical point of view: the appearance of pseudo-Pelger cells in CML indicates that 17p deletion actually occurred. This event implies a negative prognosis. ..
  11. Sotelo Cruz N, González Olivas A, Covarrubias Espinoza G, Lira Garcés J, Valencia Mayoral P. [The Pelger-Huët anomaly. A clinical and ultrastructural study of a family from northeastern Mexico]. Bol Med Hosp Infant Mex. 1991;48:261-6 pubmed
    ..This work includes some discussion on inherited traits, their presentation, morphology, differential diagnosis and emphasizes the importance in recognizing this anomaly and the promotion of genetic counselling. ..
  12. Suzuki N, Yasutake T, Ushiyama O, Hiida M, Ohta A, Yamaguchi M. Familial Pelger-Huet anomaly accompanied by tuberculosis and complicated by acute polyarthritis. Scand J Rheumatol. 1995;24:319-20 pubmed
    ..Investigations surrounding this case suggests that the immunological abnormalities may be associated with the PH anomaly and the tuberculosis, and that the complications may be related to the development of the acute polyarthritis. ..
  13. Pasanen A, Ruutu P, Kosunen T, Tenhunen R. Impaired heme synthesis in a family with Pelger-Huët anomaly, recurrent abdominal pain attacks and impaired neutrophil motility in vitro. Eur J Haematol. 1987;39:274-7 pubmed
    ..The cause of the impaired neutrophil motility may be a defect in energy metabolism due to decreased supply of heme for oxidative metabolism. ..
  14. Kennedy G, Kay T, Johnson D, Hawley C, Campbell S, Isbel N, et al. Neutrophil dysplasia characterised by a pseudo-Pelger-Huet anomaly occurring with the use of mycophenolate mofetil and ganciclovir following renal transplantation: a report of five cases. Pathology. 2002;34:263-6 pubmed
    ..Further study is required to determine the exact incidence and pathogenesis of this pattern of bone marrow toxicity. ..
  15. Chiang M, Fleming M. The pseudo-Pelger-Huët anomaly in pyoderma gangrenosum associated with myelodysplastic syndrome. Am J Dermatopathol. 2007;29:293-5 pubmed
    ..These patients are also at risk for developing neutrophilic dermatosis as well as leukemia cutis, the main differential diagnosis. In our case, the proper diagnosis was made with the help of immunohistochemistry. ..
  16. Cohen T, Klarmann K, Sakchaisri K, Cooper J, Kuhns D, Anver M, et al. The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils. Hum Mol Genet. 2008;17:2921-33 pubmed publisher
    ..Our findings indicate that the Lbr(GT/GT) mice are a model for Pelger-Huët anomaly and that Lbr, under transcriptional regulation of C/EBPepsilon, is necessary for morphological but not necessarily functional granulocyte maturation. ..
  17. Hiraga H, Yabe H, Nagai K, Nakayama S. [Myelodysplastic syndrome in a patient with familial Pelger-Huet anomaly]. Rinsho Ketsueki. 1991;32:1453-7 pubmed
    ..6% blasts and dysplastic changes including megaloblastoid features in erythroid series and micro-megakaryocytes compatible with refractory anemia, a subtype of MDS. The association of hereditary Pelger-Huet anomaly and MDS is discussed. ..
  18. Dusse L, Morais E Silva R, Freitas V, Medeiros de Paula G, Vieira L, Carvalho M. Pseudo-Pelger-Huët in kidney-transplanted patients. Acta Haematol. 2006;116:272-4 pubmed
    ..Only a combination of laboratory and clinical data will facilitate a better understanding of this anomaly and its correct follow-up and management. ..
  19. Fishbein J, Falletta J. Pelger-Huet anomaly in an infant with multiple congenital anomalies. Am J Hematol. 1991;38:240-2 pubmed
    ..The infant's parents are not affected by PHA, raising the possibility that the PHA resulted from a spontaneous mutation. ..
  20. Gondo H, Okamura C, Osaki K, Shimoda K, Asano Y, Okamura T. Acquired Pelger-Huët anomaly in association with concomitant tacrolimus and fluconazole therapy following allogeneic bone marrow transplantation. Bone Marrow Transplant. 2000;26:1255-7 pubmed
    ..Transient occurrence of Pelger-Huët cells may be associated with tacrolimus toxicity due to drug interaction with fluconazole. ..
  21. Speeckaert M, Verhelst C, Koch A, Speeckaert R, Lacquet F. Pelger-Huët anomaly: a critical review of the literature. Acta Haematol. 2009;121:202-6 pubmed publisher
    ..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. ..
  22. Asmis L, Hadaya K, Majno P, Toso C, Triponez F, Starobinski M. Acquired and reversible Pelger-Huët anomaly of polymorphonuclear neutrophils in three transplant patients receiving mycophenolate mofetil therapy. Am J Hematol. 2003;73:244-8 pubmed
    ..In the other two patients, the left shift disappeared after dose reduction. In these latter two patients, a form of desensitization to the effect of MMF on neutro- phils was observed following re-augmentation of MMF dose. ..
  23. Anand M, Kumar R, Raina V. Pelger-Huet anomaly: a case report. Indian J Pathol Microbiol. 2007;50:661-2 pubmed
    ..Peripheral blood and bone marrow findings and cytochemistry of the abnormal cells are described and the disease entity discussed. ..
  24. Kallo J, Malina A, Malinova V, Pennigerová S. [A case of Pelger-Huet anomaly in a premature infant]. Folia Haematol Int Mag Klin Morphol Blutforsch. 1989;116:145-9 pubmed
    ..The changes of the karyotype and possible relations to Pelger-Huët's anomaly and malformations of development are discussed in detail. ..
  25. Etzell J, Wang E. Acquired Pelger-Huët anomaly in association with concomitant tacrolimus and mycophenolate mofetil in a liver transplant patient: a case report and review of the literature. Arch Pathol Lab Med. 2006;130:93-6 pubmed
  26. Alexander I, Tauro G, Bankier A. Fetal brain disruption sequence in sisters. Eur J Pediatr. 1995;154:654-7 pubmed
    ..In some families the recurrence risk may be as high as one in four. ..
  27. Lai J, Zandecki M, Fenaux P, Le Baron F, Bauters F, Cosson A, et al. Translocations (5;17) and (7;17) in patients with de novo or therapy-related myelodysplastic syndromes or acute nonlymphocytic leukemia. A possible association with acquired pseudo-Pelger-Huët anomaly and small vacuolated granulocytes. Cancer Genet Cytogenet. 1990;46:173-83 pubmed
    ..A possible correlation between cytological anomalies and cytogenetic data is discussed, and the role of 17p in the nuclear segmentation of granulocytes is stressed. ..
  28. Singh N, Johnstone D, Martin K, Tempera I, Kaplan M, Denny M. Alterations in nuclear structure promote lupus autoimmunity in a mouse model. Dis Model Mech. 2016;9:885-97 pubmed publisher
  29. Maksimova N, Hara K, Nikolaeva I, Chun Feng T, Usui T, Takagi M, et al. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. J Med Genet. 2010;47:538-48 pubmed publisher
    ..These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huët anomaly. ..
  30. Liesveld J, Smith B. Acquired Pelger-Huet anomaly in a case of non-Hodgkin's lymphoma. Acta Haematol. 1988;79:46-9 pubmed
    ..This report describes a case of acquired Pelger-Huet anomaly in non-Hodgkin's lymphoma and reviews the association of this anomaly with both lymphoid and myeloid hematologic disorders. ..
  31. Shmuely H, Pitlik S, Inbal A, Rosenfeld J. Pelger-Huët anomaly mimicking 'shift to the left'. Neth J Med. 1993;42:168-70 pubmed
  32. Gill A, Gaunt S, Sirninger J. Congenital Pelger-Huët anomaly in a horse. Vet Clin Pathol. 2006;35:460-2 pubmed
    ..To our knowledge, this is the first reported case of congenital PHA in a horse. ..
  33. Ware R, Kurtzberg J, Brazy J, Falletta J. Congenital Pelger-Huet anomaly in triplets. Am J Hematol. 1988;27:226-7 pubmed
    ..We report the first known case of triplets with this condition, and emphasize the need to identify accurately this normal variant. ..
  34. Juneja S, Matthews J, Luzinat R, Fan Y, Michael M, Rischin D, et al. Association of acquired Pelger-Huet anomaly with taxoid therapy. Br J Haematol. 1996;93:139-41 pubmed
    ..001) and for paclitaxel compared with controls (P = 0.007). We conclude that taxoid therapy produces transient APHA which peaks between days 3 and 9 and is more pronounced with docetaxel than with paclitaxel. ..
  35. Balasubramanian M, Hurst J, Brown S, Bishop N, Arundel P, DeVile C, et al. Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone. 2017;94:65-74 pubmed publisher
    ..Here we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. We explore the mechanism underlying NBAS and the striking skeletal phenotype in our patients. ..
  36. Li X, Wu L, Ying S, Chang C, Pu Q. Clonality investigation of morphologically dysplastic hematopoietic cells in myelodysplastic syndrome marrows. Int J Hematol. 2008;87:176-183 pubmed publisher
    ..Our research suggested that tri-lineage morphological dyshematopoiesis is secondum alteration not a specific feature (imagery) of the abnormal chromosomal clone in MDS. ..
  37. Mohamed I, Wynn R, Cominsky K, Reynolds A, Ryan R, Kumar V, et al. White blood cell left shift in a neonate: a case of mistaken identity. J Perinatol. 2006;26:378-80 pubmed
    ..We present this case to emphasize that even in this age of sophisticated laboratory evaluation, a good clinical history, including family history, and clinical evaluation, are essential for accurate diagnosis. ..
  38. Cicchitto G, Parravicini M, De Lorenzo S, Di Pisa G, Malacrida A. Tuberculosis and Pelger-Huët anomaly. Case report. Panminerva Med. 1999;41:367-9 pubmed
    ..We suggest therefore that, when Pelger-Huët anomaly is found, an underlying disease should be searched for; the course of this illness, however, might not be affected. ..
  39. Nogita T, Morioka N, Ishibashi Y, Kawashima M, Mizoguchi M, Otsuka F. Pelgeroid-like anomalous cells in the diagnosis of neutrophilic dermatosis associated with myelodysplastic syndrome. Int J Dermatol. 1992;31:864-5 pubmed
    ..In contrast, ND without accompanying myeloproliferative disorders rarely had such anomalous cells. Our findings suggest that pelgeroid-like anomalous cells infiltrating into ND are probably a good marker of underlying MDS. ..