జర్నల్ ఆఫ్ క్లినికల్ అండ్ సెల్యులార్ ఇమ్యునాలజీ
అందరికి ప్రవేశం

నైరూప్య

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

Lauren Beene, Baozhong Xin, Claudia Lukas and Heng Wang

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 independently, the presence of this mutation in conjunction with mutations in COH1 led to neutropenia that was more severe than what is typically seen in Cohen syndrome. This case report suggests that the combination of mutations in ELANE and COH1, both impacting similar intracellular trafficking mechanisms, led to an exaggerated clinical phenotype. Based on this case presentation, we encourage consideration of additional candidate genes when an identified genetic mutation cannot fully explain the scope or severity of the clinical picture, as recognition of all mutations impacting a clinical phenotype will help achieve a more comprehensive diagnosis.