Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis

Cindy S Ma; Alexandra F Freeman; Thomas A Fleisher

doi:10.1016/j.jaip.2023.03.049

Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis

J Allergy Clin Immunol Pract. 2023 Jun;11(6):1579-1591. doi: 10.1016/j.jaip.2023.03.049. Epub 2023 Apr 11.

Authors

Cindy S Ma¹, Alexandra F Freeman², Thomas A Fleisher³

Affiliations

¹ Immunology Program, Garvan Institute of Medical Research, Sydney, NSW, Australia; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia. Electronic address: [email protected].
² Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
³ Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Md.

Abstract

With the exponential discovery of new inborn errors of immunity (IEI), it is becoming increasingly difficult to differentiate between a number of the more recently defined disorders. This is compounded by the fact that although IEI primarily present with immunodeficiency, the spectrum of disease is broad and often extends to features typical of autoimmunity, autoinflammation, atopic disease, and/or malignancy. Here we use case studies to discuss the laboratory and genetic tests used that ultimately led to the specific diagnoses.

Keywords: Diagnosis of inborn errors of immunity; Flow cytometry; Functional testing; Genetic testing; Laboratory immunology.

Publication types

Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't

MeSH terms

Autoimmunity*
Flow Cytometry
Genetic Testing*
Humans

Grants and funding

ZIA AI001247/ImNIH/Intramural NIH HHS/United States