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

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

卷:145

Article

Chinn, Ivan K.^1,2  Chan, Alice Y.³  Chen, Karin⁴  Chou, Janet^5,6  Dorsey, Morna J.³  Hajjar, Joud^1,2  Jongco, Artemio M., III^7,8,9  Keller, Michael D.¹⁰  Kobrynski, Lisa J.¹¹  Kumanovics, Attila¹²  Lawrence, Monica G.¹³  Leiding, Jennifer W.^14,15,16  Lugar, Patricia L.¹⁷  Orange, Jordan S.^19,20  Patel, Kiran¹¹  Platt, Craig D.^5,6  Puck, Jennifer M.³  Raje, Nikita^21,22  Romberg, Neil^23,24  Slack, Maria A.^25,26  Sullivan, Kathleen E.^23,24  Tarrant, Teresa K.¹⁸  Torgerson, Troy R.^27,28  Walter, Jolan E.^14,15,29 

[1] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[2] Texas Childrens Hosp, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA

[3] Univ Calif San Francisco, Dept Pediat, Div Allergy Immunol & Bone Marrow Transplantat, San Francisco, CA 94143 USA

[4] Univ Utah, Sch Med, Dept Pediat, Div Allergy & Immunol, Salt Lake City, UT USA

[5] Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA

[6] Boston Childrens Hosp, Div Allergy & Immunol, Boston, MA USA

[7] Donald & Barbara Zucker Sch Med Hofstra Northwell, Dept Med & Pediat, Great Neck, NY USA

[8] Feinstein Inst Med Res, Ctr Hlth Innovat & Outcomes Res, Great Neck, NY USA

[9] Cohen Childrens Med Ctr New York, Div Allergy & Immunol, Great Neck, NY USA

[10] Childrens Natl Hosp, Dept Allergy & Immunol, Washington, DC USA

[11] Emory Univ, Sch Med, Dept Pediat, Div Allergy & Immunol, Atlanta, GA USA

[12] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[13] Univ Virginia Hlth Syst, Dept Med, Div Asthma Allergy & Immunol, Charlottesville, VA USA

[14] Univ S Florida, Dept Pediat & Med, St Petersburg, FL USA

[15] Johns Hopkins All Childrens Hosp, Div Pediat Allergy Immunol, St Petersburg, FL USA

[16] Johns Hopkins All Childrens Hosp, Canc & Blood Disorders Inst, St Petersburg, FL USA

[17] Duke Univ, Med Ctr, Dept Med, Div Pulm Allergy & Crit Care Med, Durham, NC 27710 USA

[18] Duke Univ, Med Ctr, Dept Med, Div Rheumatol & Immunol, Durham, NC 27710 USA

[19] Columbia Univ Coll Phys & Surg, Dept Pediat, New York, NY 10032 USA

[20] New York Presbyterian Morgan Stanley Childrens Ho, New York, NY USA

[21] Univ Missouri, Dept Pediat, Kansas City, MO 64110 USA

[22] Childrens Mercy Hosp, Div Allergy Asthma Immunol, Kansas City, MO 64108 USA

[23] Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

[24] Childrens Hosp Philadelphia, Div Allergy Immunol, Philadelphia, PA 19104 USA

[25] Univ Rochester, Med Ctr, Dept Med, Div Allergy Immunol, Rochester, NY 14642 USA

[26] Univ Rochester, Med Ctr, Dept Pediat, Div Pediat Allergy & Immunol, Rochester, NY 14642 USA

[27] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA

[28] Seattle Childrens Res Inst, Ctr Immun & Immunotherapies, Seattle, WA USA

[29] Massachusetts Gen Hosp, Div Pediat Allergy Immunol, Boston, MA 02114 USA

关键词: Chromosomal microarray;    exome sequencing;    gene panel;    genetic testing;    genome sequencing;    Mendelian;    primary immunodeficiency;    Sanger sequencing;    tools;    variant interpretation;   

DOI  :  10.1016/j.jaci.2019.09.009

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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