Inherited Disorder: Pelger-Huët Anomaly

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Submit Manuscript | http://medcraveonline.com Abbreviations: AML: Acute Myeloid Leukemia; CBC: Complete Blood Count; CML: Chronic Myeloid Leukemia; HIV: Human Immunodeficiency Virus; IFN-g: Interferon Gamma; INM: Inner Nuclear Membrane; LBR: Lamin B Receptor; MDS: Myelodysplastic Syndrome; NE: Nuclear Envelope; ONM: Outer Nuclear Membrane; PHA: Pelger-Huët Anomaly; PHA: PseudoPelger-Huët Anomaly; TB: Tuberculosis; TNF-a: Tumor Necrosis Factor-alpha; WBC: White Blood Cell

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Severe generalized muscular atrophia, nerve optic atrophia, ear problem and disability with Pelger-Huet anomaly

Background: The Pelger-Huet anomaly dominantly is a rare and benign inherited defect of terminal neutrophil differentiation. Although neutrophil migration may be minimally impaired, granulocytes function is otherwise normal association abnormalities such as ocular, musculoskeletal are reported very rare. Case: An eight year-old boy with good consciousness but severe muscular atrophia and diffic...

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معرفی یک خانواده مبتلا به ناهنجاری پلگرهوت ارثی

A 12-year-old boy was seen for abdominal pain and sent to the lab. For CBC. Even though CBC was normal in peripheral smear many of neutrophils (PMN) had only two lobes, with diagnosis of Pelger-Huet anomaly. CBC was performed on parents and three siblings which revealed the same type of anomaly in the mother and the other three children. The father was normal. This anomaly was first described b...

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Severe generalized muscular atrophia, nerve optic atrophia, ear problem and disability with Pelger-Huet anomaly.

BACKGROUND The Pelger-Huet anomaly dominantly is a rare and benign inherited defect of terminal neutrophil differentiation. Although neutrophil migration may be minimally impaired, granulocytes function is otherwise normal association abnormalities such as ocular, musculoskeletal are reported very rare. Case Presentation : An eight year-old boy with good consciousness but severe muscular atroph...

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The Pelger-huuet Anomaly and Megaloblastic Anemia.

By S. ARDEMAN, I. CIIANARIN AND A. \V. FRANKLAND T HE Pelger-Huet anomaly of Ieukocytcs is characterized by the ence of tii oval, indented or bibbed ( “pincc-nez” ) nucleus in the neutrophil polymorphonuclear leukocytes which replaces the normal nuclear segmentation of these cells ( Pelger’ ) . It is inherited as an autosomal dominant characteristic ( Hu#{235}t2 ) , the incidence being 1 in 600...

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تاریخ انتشار 2017