Review

. 2018 Apr;38(3):320-329.

doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19.

Use of Genetic Testing for Primary Immunodeficiency Patients

Jennifer R Heimall¹, David Hagin², Joud Hajjar³, Sarah E Henrickson^{4

5}, Hillary S Hernandez-Trujillo^{6

7}, Yuval Tan⁸, Lisa Kobrynski⁹, Kenneth Paris¹⁰, Troy R Torgerson¹¹, James W Verbsky¹², Richard L Wasserman¹³, Elena W Y Hsieh¹⁴, Jack J Blessing¹⁵, Janet S Chou^{16

17}, Monica G Lawrence¹⁸, Rebecca A Marsh¹⁹, Sergio D Rosenzweig²⁰, Jordan S Orange^{21

22}, Roshini S Abraham²³

Affiliations

¹ Division of Allergy and Immunology, Children's Hospital of Philadelphia, University of Pennsylvania, Wood Building 3rd Floor, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA. heimallj@email.chop.edu.
² Allergy and Immunology Division, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.
³ Department of Pediatrics, Section of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, USA.
⁴ Division of Allergy and Immunology, Children's Hospital of Philadelphia, University of Pennsylvania, Wood Building 3rd Floor, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.
⁵ Wherry Lab, University of Pennsylvania, Philadelphia, PA, USA.
⁶ Division of Infectious Disease & Immunology, Connecticut Children's Medical Center, Hartford, CT, USA.
⁷ CT Asthma and Allergy Center, West Hartford, CT, USA.
⁸ The Charles Bronfman Institute of Personalized Medicine, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
⁹ Allergy/Immunology, Emory University, Atlanta, GA, USA.
¹⁰ Division of Allergy-Immunology, LSU Health Sciences Center, Children's Hospital, New Orleans, LA, USA.
¹¹ Department of Pediatrics, University of Washington, Seattle, WA, USA.
¹² Pediatrics and Microbiology and Molecular Genetics Section of Pediatric Rheumatology, Medical College of Wisconsin, Milwaukee, WI, USA.
¹³ Department of Pediatrics, Medical City Children's Hospital, Dallas, TX, USA.
¹⁴ Department of Immunology and Microbiology, Department of Pediatrics, Division of Allergy and Immunology, University of Colorado, School of Medicine, Aurora, CO, USA.
¹⁵ Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
¹⁶ Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
¹⁷ Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
¹⁸ Division of Asthma, Allergy and Clinical Immunology, University of Virginia Health System, Charlottesville, VA, USA.
¹⁹ Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
²⁰ NIH Clinical Center, Bethesda, MD, USA.
²¹ Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, USA.
²² Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
²³ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

PMID: 29675737
DOI: 10.1007/s10875-018-0489-8

Review

Use of Genetic Testing for Primary Immunodeficiency Patients

Jennifer R Heimall et al. J Clin Immunol. 2018 Apr.

. 2018 Apr;38(3):320-329.

doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19.

Authors

Affiliations

¹ Division of Allergy and Immunology, Children's Hospital of Philadelphia, University of Pennsylvania, Wood Building 3rd Floor, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA. heimallj@email.chop.edu.
² Allergy and Immunology Division, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.
³ Department of Pediatrics, Section of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, USA.
⁴ Division of Allergy and Immunology, Children's Hospital of Philadelphia, University of Pennsylvania, Wood Building 3rd Floor, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.
⁵ Wherry Lab, University of Pennsylvania, Philadelphia, PA, USA.
⁶ Division of Infectious Disease & Immunology, Connecticut Children's Medical Center, Hartford, CT, USA.
⁷ CT Asthma and Allergy Center, West Hartford, CT, USA.
⁸ The Charles Bronfman Institute of Personalized Medicine, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
⁹ Allergy/Immunology, Emory University, Atlanta, GA, USA.
¹⁰ Division of Allergy-Immunology, LSU Health Sciences Center, Children's Hospital, New Orleans, LA, USA.
¹¹ Department of Pediatrics, University of Washington, Seattle, WA, USA.
¹² Pediatrics and Microbiology and Molecular Genetics Section of Pediatric Rheumatology, Medical College of Wisconsin, Milwaukee, WI, USA.
¹³ Department of Pediatrics, Medical City Children's Hospital, Dallas, TX, USA.
¹⁴ Department of Immunology and Microbiology, Department of Pediatrics, Division of Allergy and Immunology, University of Colorado, School of Medicine, Aurora, CO, USA.
¹⁵ Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
¹⁶ Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
¹⁷ Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
¹⁸ Division of Asthma, Allergy and Clinical Immunology, University of Virginia Health System, Charlottesville, VA, USA.
¹⁹ Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
²⁰ NIH Clinical Center, Bethesda, MD, USA.
²¹ Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, USA.
²² Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
²³ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

PMID: 29675737
DOI: 10.1007/s10875-018-0489-8

Erratum in

Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients.
Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Heimall JR, et al. J Clin Immunol. 2018 May;38(4):540-541. doi: 10.1007/s10875-018-0510-2. J Clin Immunol. 2018. PMID: 29781065

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.

Keywords: Immunodeficiency; genetic testing; sanger sequencing; whole exome testing; whole genome testing.

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