View Only-Clinical Utility of Whole Exome Sequencing in a Patient with Recurrent Infections-Clinical Utility of Whole Exome Sequencing in a Patient with Recurrent Infections

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Video Summary

In this video, a clinical case of a patient with recurrent infections is discussed. The patient has congenital unilateral hearing loss, acquired hearing loss in the other ear, and a history of recurrent sinusitis, otitis media, and pneumonias. The clinicians suspected either primary ciliary dyskinesia or immunodeficiency as the possible diagnoses. To further investigate the patient's condition, whole exome sequencing was performed. Two variants were identified: a missense variant in the CCDC151 gene and a splice variant in the ELANE gene. The missense variant in CCDC151 was classified as a variant of unknown significance, as there was not enough evidence to support a pathogenic role. On the other hand, the splice variant in ELANE was classified as pathogenic based on the available evidence. ELANE-related neutropenia, a condition characterized by cyclic neutropenia or severe congenital neutropenia, was considered as the primary diagnosis for the patient. The patient's clinical presentation, such as recurrent infections, was consistent with ELANE-related neutropenia, although some typical symptoms were not observed. Treatment options for the patient include close monitoring, considering the risk of neutropenia and the development of myelodysplastic syndrome or acute myeloid leukemia. The patient's parents are also being tested to understand the genetic inheritance pattern better, and family planning is being discussed as a potential next step.

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Keywords

clinical case

recurrent infections

hearing loss

sinusitis

otitis media

pneumonias

primary ciliary dyskinesia

immunodeficiency

neutropenia