Pelger-Huet Anomaly Follow-up

1. Cohen TV, Klarmann KD, Sakchaisri K, 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 Oct 1. 17(19):2921-33. [QxMD MEDLINE Link].

2. Cunningham JM, Patnaik MM, Hammerschmidt DE, Vercellotti GM. Historical perspective and clinical implications of the Pelger-Hüet cell. Am J Hematol. 2009 Feb. 84(2):116-9. [QxMD MEDLINE Link].

3. Kuriyama K, Tomonaga M, Matsuo T, Ginnai I, Ichimaru M. Diagnostic significance of detecting pseudo-Pelger-Huët anomalies and micro-megakaryocytes in myelodysplastic syndrome. Br J Haematol. 1986 Aug. 63(4):665-9. [QxMD MEDLINE Link].

4. Erice JG, Perez JM, Pericas FS. Homozygous form of the Pelger-Huët anomaly. Haematologica. 1999 Aug. 84(8):748. [QxMD MEDLINE Link].

5. Hoffmann K, Dreger CK, Olins AL, et al. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet. 2002 Aug. 31(4):410-4. [QxMD MEDLINE Link].

6. Nikolakaki E, Mylonis I, Giannakouros T. Lamin B Receptor: Interplay between Structure, Function and Localization. Cells. 2017 Aug 31. 6 (3):[QxMD MEDLINE Link].

7. Hoffmann K, Sperling K, Olins AL, Olins DE. The granulocyte nucleus and lamin B receptor: avoiding the ovoid. Chromosoma. 2007 Jun. 116(3):227-35. [QxMD MEDLINE Link].

8. Best S, Salvati F, Kallo J, et al. Lamin B-receptor mutations in Pelger-Huët anomaly. Br J Haematol. 2003 Nov. 123(3):542-4. [QxMD MEDLINE Link].

9. Ye Q, Callebaut I, Pezhman A, Courvalin JC, Worman HJ. Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR. J Biol Chem. 1997 Jun 6. 272(23):14983-9. [QxMD MEDLINE Link].

10. Lukasova E, Kovarik A, Kozubek S. Consequences of Lamin B1 and Lamin B Receptor Downregulation in Senescence. Cells. 2018 Feb 6. 7 (2):[QxMD MEDLINE Link]. [Full Text].

11. Cohen TV, Klarmann KD, Sakchaisri K, Cooper JP, 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 Oct 1. 17(19):2921-33. [QxMD MEDLINE Link].

12. Matsumoto T, Harada Y, Yamaguchi K, et al. Cytogenetic and functional studies of leukocytes with Pelger-Huët anomaly. Acta Haematol. 1984. 72(4):264-73. [QxMD MEDLINE Link].

13. Turner EM, Schlieker C. Pelger-Huet anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. Rare Dis. 2016. 4 (1):e1241363. [QxMD MEDLINE Link]. [Full Text].

14. Tsai PL, Zhao C, Turner E, Schlieker C. The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. Elife. 2016 Jun 23. 5:[QxMD MEDLINE Link]. [Full Text].

15. Oosterwijk JC, Mansour S, van Noort G, et al. Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J Med Genet. 2003 Dec. 40(12):937-41. [QxMD MEDLINE Link].

16. Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A. 2013 Aug. 161A(8):2066-73. [QxMD MEDLINE Link].

17. Kalfa TA, Zimmerman SA, Goodman BK, et al. Pelger-Huët anomaly in a child with 1q42.3-44 deletion. Pediatr Blood Cancer. 2006 May 1. 46(5):645-8. [QxMD MEDLINE Link].

18. Staufner C, Peters B, Wagner M, et al. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. Genet Med. 2020 Mar. 22 (3):610-21. [QxMD MEDLINE Link].

19. Christensen RD, Yaish HM. A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12. J Perinatol. 2012 Mar. 32 (3):238-40. [QxMD MEDLINE Link].

20. Sun M, Yang S, Jiang J, Wang Q. Detection of Pelger-Huet anomaly based on augmented fast marching method and speeded up robust features. Biomed Mater Eng. 2015. 26 Suppl 1:S1241-8. [QxMD MEDLINE Link].

21. Sasada K, Yamamoto N, Masuda H, et al. Inter-observer variance and the need for standardization in the morphological classification of myelodysplastic syndrome. Leuk Res. 2018 Jun. 69:54-9. [QxMD MEDLINE Link].

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK) Professor Emeritus of Pediatrics, Albany Medical College; Chief of Pediatric Oncology, Homi Bhabha Cancer Hospital, Varanasi, India

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK) is a member of the following medical societies: Children's Oncology Group, Indian Academy of Pediatrics, International Society of Pediatric Oncology

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Frank E Shafer, MD, to the original writing and development of this topic.

• Print this section
• Print the entire contents of
• Print the entire contents of article