Case Report


Multiple genetic mutation and aberrant loss of CD16 in a patient with neutropenia

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1 Department of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour Street, Hartford, CT 06102, USA

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Safina Hafeez

Department of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour Street, Hartford, CT 06102,

USA

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Article ID: 100060Z11SH2022

doi: 10.5348/100060Z11SH2022CR

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How to cite this article

Hafeez S, Shen PUF. Multiple genetic mutation and aberrant loss of CD16 in a patient with neutropenia. J Case Rep Images Pathol 2022;8:100060Z11SH2022.

ABSTRACT


We report a case of a patient with neutropenia and loss of CD16 in mature neutrophils as well as its novel correlation with persistent SH2B3 mutation with high variant allele fraction.

Keywords: CD16, Flow cytometry, Next generation sequencing, SH2B3

SUPPORTING INFORMATION


Author Contributions

Safina Hafeez - Acquisition of data, Analysis of data, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Peter UF Shen - Conception of the work, Design of the work, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Guarantor of Submission

The corresponding author is the guarantor of submission.

Source of Support

None

Consent Statement

Written informed consent was obtained from the patient for publication of this article.

Data Availability

All relevant data are within the paper and its Supporting Information files.

Conflict of Interest

Authors declare no conflict of interest.

Copyright

© 2022 Safina Hafeez et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.