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Claudia Lukas | OMICS International
ISSN: 2155-9899

Journal of Clinical & Cellular Immunology
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Claudia Lukas


Mutations in ELANE and COH1 (VPS13B) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome

In this case report we describe a patient with cohen syndrome and severe neutropenia. The patient was found to have a mutation of previously undetermined significance in the ELANE gene and compound heterozygous mutations in the COH1 gene causing Cohen syndrome. While the mutation in ELANE may not have led to clinically significant neutropenia indep... Read More»

Lauren Beene, Baozhong Xin, Claudia Lukas and Heng Wang

Case Report: J Clin Cell Immunol 2015, 6: 378

DOI: 10.4172/2155-9899.1000378

Abstract Peer-reviewed Full Article Peer-reviewed Article PDF