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Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.

Publication ,  Journal Article
Chinn, IK; Chan, AY; Chen, K; Chou, J; Dorsey, MJ; Hajjar, J; Jongco, AM; Keller, MD; Kobrynski, LJ; Kumanovics, A; Lawrence, MG; Leiding, JW ...
Published in: J Allergy Clin Immunol
January 2020

Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases.

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Published In

J Allergy Clin Immunol

DOI

EISSN

1097-6825

Publication Date

January 2020

Volume

145

Issue

1

Start / End Page

46 / 69

Location

United States

Related Subject Headings

  • United States
  • Primary Immunodeficiency Diseases
  • Humans
  • Genetic Testing
  • Asthma
  • Allergy
  • 3204 Immunology
  • 1107 Immunology
 

Citation

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Chicago
ICMJE
MLA
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Chinn, I. K., Chan, A. Y., Chen, K., Chou, J., Dorsey, M. J., Hajjar, J., … Walter, J. E. (2020). Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol, 145(1), 46–69. https://doi.org/10.1016/j.jaci.2019.09.009
Chinn, Ivan K., Alice Y. Chan, Karin Chen, Janet Chou, Morna J. Dorsey, Joud Hajjar, Artemio M. Jongco, et al. “Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.J Allergy Clin Immunol 145, no. 1 (January 2020): 46–69. https://doi.org/10.1016/j.jaci.2019.09.009.
Chinn IK, Chan AY, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM, Keller MD, Kobrynski LJ, Kumanovics A, Lawrence MG, Leiding JW, Lugar PL, Orange JS, Patel K, Platt CD, Puck JM, Raje N, Romberg N, Slack MA, Sullivan KE, Tarrant TK, Torgerson TR, Walter JE. Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol. 2020 Jan;145(1):46–69.
Journal cover image

Published In

J Allergy Clin Immunol

DOI

EISSN

1097-6825

Publication Date

January 2020

Volume

145

Issue

1

Start / End Page

46 / 69

Location

United States

Related Subject Headings

  • United States
  • Primary Immunodeficiency Diseases
  • Humans
  • Genetic Testing
  • Asthma
  • Allergy
  • 3204 Immunology
  • 1107 Immunology