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.

Also Known As:

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

Networked: 67 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	HEM dysplasia
2.	Liver Failure
3.	Atrophy
4.	Ichthyosis (Xeroderma)
5.	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome)

Experts

1.	Olins, Ada L: 5 articles (03/2013 - 08/2002)
2.	Hoffmann, Katrin: 4 articles (11/2017 - 08/2002)
3.	Sperling, Karl: 4 articles (11/2017 - 08/2002)
4.	Herrmann, Harald: 4 articles (03/2013 - 08/2002)
5.	Olins, Donald E: 4 articles (11/2010 - 08/2002)
6.	Carvalho, Maria das Graças: 3 articles (11/2010 - 01/2006)
7.	Vieira, Lauro Mello: 3 articles (11/2010 - 01/2006)
8.	Shultz, Leonard D: 3 articles (08/2008 - 08/2002)
9.	Giannakouros, Thomas: 2 articles (12/2021 - 08/2017)
10.	Wang, Endi: 2 articles (01/2021 - 01/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pelger-Huet Anomaly:

1.	Proteins (Proteins, Gene)FDA Link 11/28/2023 - "Moreover, genetic deletion of the protein causes a significant reduction of the number of nuclear lobes in neutrophils and eosinophils, mimicking the hematological condition of the Pelger-Huët anomaly. " 01/01/2021 - "Variants in NBAS protein have been associated with ILFS2 (infantile liver failure syndrome-2), SOPH syndrome (short stature, optic nerve atrophy, and Pelger-Huët anomaly syndrome), and multisystem diseases. " 01/01/2020 - "Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH). " 11/01/2020 - "Biallelic neuroblastoma ampliﬁed sequence (NBAS) gene mutations have recently been identified to cause a reduction in its protein expression and a broad phenotypic spectrum, from isolated short stature, optic nerve atrophy, and Pelger-Huët anomaly (SOPH) syndrome or infantile liver failure syndrome 2 to a combined, multi-systemic disease including skeletal dysplasia and immunological and neurological abnormalities. " 01/01/2005 - "Lack of LBR protein in familial Pelger-Huet anomaly results in hypolobulation and chromatin-hypercondensation in neutrophils, but in other cells such as erythroblasts and lymphocytes only chromatin-hypercondensation can be observed. "
2.	RadiumIBA 01/01/2019 - "In this study, pseudo-Pelger Huët anomaly was examined in peripheral blood slides from a cohort of 166 former radium dial painters and ancillary personnel in the radium dial industry, 35 of whom had a marrow dose of zero above background. "
3.	ChromatinIBA 10/06/2022 - "Abnormal nuclear segmentation and chromatin compaction were also observed in approximately 20% of neutrophils, indicating the presence of a pseudo-Pelger-Huët anomaly. " 05/01/2022 - "Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. " 01/01/2020 - "Pathogenic variants in LBR are also associated with Pelger-Huët anomaly, an autosomal dominant benign abnormality of the nuclear shape and chromatin organization of blood granulocytes, and Pelger-Huët anomaly with variable skeletal anomalies, a mild, regressing to moderate-severe autosomal recessive condition. " 10/13/2019 - "The peripheral blood smear showed neutrophils with markedly hyposegmented nuclei or bilobed nuclei and very condensed chromatin or clumping chromatin all consistent with Pelger-Huët anomaly (PHA). " 11/11/2010 - "Pelger-Huët anomaly (PHA) is a benign inherited condition characterized by hyposegmentation of the neutrophil's nucleus and excessive chromatin clumping. "
4.	Lamin B ReceptorIBA 12/01/2020 - "This report provides additional evidence of variability for Lamin B receptor-related disorders associated with a non-lethal skeletal dysplasia without Pelger-Huët anomaly. " 12/01/2020 - "A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly." 03/22/2013 - "We probed neutrophil-differentiated HL-60 cells lacking expression of lamin B receptor, which fail to develop lobulated nuclei during granulopoiesis and present an in vitro model for Pelger-Huët anomaly; despite the circular morphology of their nuclei, the cells passed through micron-scale constrictions on similar timescales as scrambled controls. " 11/01/2010 - "An in vitro model for Pelger-Huët anomaly: stable knockdown of lamin B receptor in HL-60 cells." 03/01/2010 - "Mutations in the Lamin B receptor lead to nuclear hyposegmentation (Pelger-Huët anomaly). "
5.	Mycophenolic Acid (Cellcept)FDA LinkGeneric 08/01/2003 - "Acquired and reversible Pelger-Huët anomaly of polymorphonuclear neutrophils in three transplant patients receiving mycophenolate mofetil therapy." 01/01/2021 - "Pseudo-Pelger-Huët anomaly in a 58-year-old woman treated with mycophenolate mofetil for flare of systemic lupus erythematosus." 01/01/2006 - "In our case, the Pelger-Huët anomaly may be the result of the combination of these 2 drugs or mycophenolate alone with subsequent desensitization because resolution of the abnormality occurred after a reduction in mycophenolate mofetil dose, and the abnormality did not recur when mycophenolate mofetil was increased to a dose previously associated with Pelger-Huët anomaly during the time that tacrolimus was discontinued." 01/01/2006 - "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." 06/01/2002 - "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."
6.	Tacrolimus (Prograf)FDA LinkGeneric 07/09/2015 - "Pseudo-Pelger-Huët anomaly in a patient on tacrolimus." 01/01/2006 - "In our case, the Pelger-Huët anomaly may be the result of the combination of these 2 drugs or mycophenolate alone with subsequent desensitization because resolution of the abnormality occurred after a reduction in mycophenolate mofetil dose, and the abnormality did not recur when mycophenolate mofetil was increased to a dose previously associated with Pelger-Huët anomaly during the time that tacrolimus was discontinued." 01/01/2006 - "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." 12/01/2000 - "In addition to glycosuria and increased serum creatinine levels, Pelger-Huët anomaly of granulocytes was found in her blood, which disappeared after discontinuation of tacrolimus. " 12/01/2000 - "Acquired Pelger-Huët anomaly in association with concomitant tacrolimus and fluconazole therapy following allogeneic bone marrow transplantation."
7.	HeterochromatinIBA 11/01/2010 - "In humans, a genetic deficiency of LBR produces Pelger-Huët anomaly, resulting in blood neutrophils that exhibit hypolobulated nuclei with redistributed heterochromatin. " 01/01/2003 - "The nature of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great interest because mutations at this locus cause marked abnormalities in nuclear heterochromatin, similar to those observed in Pelger-Huët anomaly (PHA). " 12/14/2012 - "Lamin B receptor (LBR) is a classical inner nuclear membrane protein that associates with heterochromatin, and its mutations are known to cause Pelger-Huët anomaly in humans. "
8.	CholesterolIBA 08/31/2017 - "Mutations within the transmembrane segments result in defects in cholesterol synthesis and are associated with diseases such as the Pelger-Huët anomaly and Greenberg skeletal dysplasia, whereas no such harmful mutations related to the anchoring properties of LBR have been reported so far. " 01/01/2016 - "Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism." 01/01/2016 - "LBR mutant derivatives implicated in Greenberg skeletal dysplasia or Pelger-Huët anomaly fail to rescue the cholesterol auxotrophy of a LBR-deficient human cell line, consistent with a loss-of-function mechanism for these congenital disorders. "
9.	Biomarkers (Surrogate Marker)IBA 01/01/2019 - "Recently, the pseudo-Pelger Huët anomaly in peripheral blood neutrophils has been described as a new radiation-induced, stable biomarker. " 01/01/2017 - "Using archival peripheral blood slides obtained from patients in the 1958 Y-12 criticality accident, the authors have recently described the pseudo-Pelger Huët anomaly (PHA) in neutrophils as a new radiation-induced biomarker. "
10.	Valproic Acid (Depakote)FDA LinkGeneric 03/01/2015 - "A case report on reversible Pelger-Huët anomaly depending on serum free fraction of valproic acid." 01/01/1990 - "Four patients with severe cerebral palsy, mental retardation, and seizures who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases). "

Therapies and Procedures

1.	Therapeutics 11/01/2009 - "Acquired Pelger-Huët anomaly associated with ibuprofen therapy." 08/01/2003 - "Acquired and reversible Pelger-Huët anomaly of polymorphonuclear neutrophils in three transplant patients receiving mycophenolate mofetil therapy." 04/01/1996 - "Association of acquired Pelger-Huet anomaly with taxoid therapy." 01/01/1985 - "Reversible Pelger-Huët anomaly associated with ibuprofen therapy." 07/01/2014 - "Acquired pseudo-Pelger-Huët anomaly under maintenance therapy with rituximab in follicular lymphoma."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/01/1982 - "Transfer of Pelger-Huet anomaly by bone marrow transplantation." 12/01/2000 - "Acquired Pelger-Huët anomaly in association with concomitant tacrolimus and fluconazole therapy following allogeneic bone marrow transplantation."
3.	Stem Cell Transplantation 01/01/2017 - "Hyposplenic changes and pseudo-Pelger-Huët anomaly following allogeneic stem cell transplantation."
4.	Hematopoietic Stem Cell Transplantation 01/01/2016 - "[Acquired Pelger-Huët anomaly/abnormal chromatin clumping of granulocytes after allogeneic hematopoietic stem cell transplantation for acute myeloid leukaemia: medication or relapse? "
5.	Liver Transplantation 01/01/2006 - "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." 01/01/2006 - "We report a case of a 56-year-old man who developed acquired Pelger-Huët anomaly following liver transplantation while on the immunosuppressive agents tacrolimus and mycophenolate mofetil. "