NovelELANEGene Mutation in a Korean Girl with Severe Congenital Neutropenia
نویسندگان
چکیده
منابع مشابه
Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia
Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration. A Korean female pediatric patient was admitted because of recurrent cervical lymphadenitis without abscess formation. She had a past history of omphalitis and isolated neutropen...
متن کاملHAX1 mutation in an infant with severe congenital neutropenia.
Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections. Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea. Serial complete blood counts indicated persistent neutropenia. Bone marrow aspiration of the patient demonstrated matur...
متن کاملGranulopoiesis in severe congenital neutropenia.
The pathogenesis of the granulopoietic failure in three children with severe congenital neutropenia was studied. Mature neutrophils were absent from both peripheral blood and bone marrow. Assay of bone marrow granulocyte colony-forming cells (CFU-C) in a methylcellulose tissue culture system using colony-stimulating activity (CSA) from peripheral blood leukocytes demonstrated normal or increase...
متن کاملSevere congenital neutropenia: case report
Introduction Neutropenia is defined in the literature as absolute neutrophil counts in peripheral blood of less than 1500 cells/mm3 in more than one year old and less than 2000cells/mm3 in children in the first year old of life. Neutropenia is classified as mild, moderate or severe, and may be congenital or acquired, persistent or not. Kostmann syndrome is a severe neutropenia, the incidence va...
متن کاملLaryngeal stenosis in a patient with severe congenital neutropenia.
OBJECTIVES/HYPOTHESIS We report the first case of laryngeal stenosis with granuloma in a patient with severe congenital neutropenia (SCN). STUDY DESIGN Case report and retrospective review. METHODS Review of medical records. RESULTS A 6-year-old female who was diagnosed with SCN presented with a cough and wheezing. An endoscopic study revealed laryngeal stenosis with granuloma. Tracheotom...
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 2011
ISSN: 1011-8934,1598-6357
DOI: 10.3346/jkms.2011.26.12.1646