Flow cytometry-based diagnosis of primary immunodeficiency diseases.
نویسندگان
چکیده
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive tool for diagnosis of PIDs. Flow cytometry can evaluate specific cell populations and subpopulations, cell surface, intracellular and intranuclear proteins, biologic effects associated with specific immune defects, and certain functional immune characteristics, each being useful for the diagnosis and evaluation of PIDs. Flow cytometry effectively identifies major forms of PIDs, including severe combined immunodeficiency, X-linked agammaglobulinemia, hyper IgM syndromes, Wiskott-Aldrich syndrome, X-linked lymphoproliferative syndrome, familial hemophagocytic lymphohistiocytosis, autoimmune lymphoproliferative syndrome, IPEX syndrome, CTLA 4 haploinsufficiency and LRBA deficiency, IRAK4 and MyD88 deficiencies, Mendelian susceptibility to mycobacterial disease, chronic mucocuneous candidiasis, and chronic granulomatous disease. While genetic analysis is the definitive approach to establish specific diagnoses of PIDs, flow cytometry provides a tool to effectively evaluate patients with PIDs at relatively low cost.
منابع مشابه
Role of flow cytometry in the diagnosis and monitoring of primary immunodeficiency disease.
This presentation is organized according to the recent classification of primary immunodeficiencies published by the International Union of Immunological Societies Primary Immunodeficiency meeting. The diseases have been classified into eight groups. After each list, individual diseases that are amenable to assessment by flow cytometry are reviewed with a brief clinical description and a discus...
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ورودعنوان ژورنال:
- Allergology international : official journal of the Japanese Society of Allergology
دوره 67 1 شماره
صفحات -
تاریخ انتشار 2018