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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2018

01-04-2018 | Original Article

Use of Genetic Testing for Primary Immunodeficiency Patients

Authors: Jennifer R. Heimall, David Hagin, Joud Hajjar, Sarah E. Henrickson, Hillary S. Hernandez-Trujillo, Yuval Tan, Lisa Kobrynski, Kenneth Paris, Troy R. Torgerson, James W. Verbsky, Richard L. Wasserman, Elena W. Y. Hsieh, Jack J. Blessing, Janet S. Chou, Monica G. Lawrence, Rebecca A. Marsh, Sergio D. Rosenzweig, Jordan S. Orange, Roshini S. Abraham

Published in: Journal of Clinical Immunology | Issue 3/2018

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Abstract

Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey. Finally, we delineate the CIS’s recommendations for the use of genetic testing in light of these issues.
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Metadata
Title
Use of Genetic Testing for Primary Immunodeficiency Patients
Authors
Jennifer R. Heimall
David Hagin
Joud Hajjar
Sarah E. Henrickson
Hillary S. Hernandez-Trujillo
Yuval Tan
Lisa Kobrynski
Kenneth Paris
Troy R. Torgerson
James W. Verbsky
Richard L. Wasserman
Elena W. Y. Hsieh
Jack J. Blessing
Janet S. Chou
Monica G. Lawrence
Rebecca A. Marsh
Sergio D. Rosenzweig
Jordan S. Orange
Roshini S. Abraham
Publication date
01-04-2018
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2018
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0489-8

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