Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1670724
Abstract: We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2… read more here.
Keywords: congenital neutropenia; elane; severe congenital; girl severe ... See more keywords
Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin
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DOI: 10.1136/jclinpath-2018-205235
Abstract: Aims Congenital and cyclical neutropenia are rare inherited diseases that result in recurrent life-threatening bacterial infections due to a deficiency of mature neutrophils. Cyclical neutropenia is usually caused by heterozygous ELANE mutations while congenital neutropenia… read more here.
Keywords: spectrum elane; mutations congenital; congenital neutropenia; elane ... See more keywords
PML Plays a Key Role in Severe Congenital Neutropenia with Mutant ELANE Causing Neutrophil Elastase Protein Misfolding
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DOI: 10.1182/blood-2019-122423
Abstract: Introduction: Severe congenital neutropenia (SCN) is a genetically heterogeneous disease characterized by recurrent infections and a predisposition for malignant transformation. A wide variety of autosomal dominant or sporadic mutations in ELANE encoding neutrophil elastase (NE)… read more here.
Keywords: elane i60f; elane; hax1; scn ... See more keywords
Increase Expression of the Genes PADI4, MPO and ELANE in the Chronic Phase of DVT Patients
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DOI: 10.1182/blood-2019-131916
Abstract: Venous thromboembolism (VTE) is a common multifactorial disease, and the knowledge in the pathophysiology can improve prophylaxis and treatment. The myeloid lineage, especially neutrophils, have been implied in the pathophysiology of VTE, but it is… read more here.
Keywords: phase; genes padi4; expression genes; elane ... See more keywords