원발성면역결핍증 환자에서 PIDOT 패널을 이용한 림프구아형검사 유용성: 2예 보고
Usefulness of Lymphocyte Subset Analysis Using Primary Immunodeficiency Orientation Tube Panel: Two Cases with Primary Immunodeficiency Diseases
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
원발성면역결핍증은 면역계의 유전적 결함으로 발생하는 이질적인 여러 질환들의 집합으로, 주된 특징인 재발되는 감염을 포함하여 다양한 임상증상을 보인다. 적절한 치료적 개입을 위해서는 빠른 진단이 필요하므로 면역표현형으로 림프구를 신속하게 구분할수 있는 전통적인 림프구 아형검사가 중요한 역할을 하였다. 그러나 분화 및 성숙단계에 따른 보다 세분화된 림프구 하위집단의 분류를 제공하여, 원발성면역결핍증이 의심될 때 질환의 유무를 선별하고 추가 검사의 방향성과 우선순위에 대한 안내를 하기 위해표준화된 Primary Immunodeficiency Orientation Tube (PIDOT)패널이 제안되었다. 저자들은 PIDOT 패널을 이용해 분화 및 성숙 단계에 따라 림프구 아형을 분석하여 원발성면역결핍증을 진단할 때 도움이 된 2명의 환아 증례를 통해 임상검사실에서 PIDOT 패널의 유용성을 보고하는 바이다.
Abstract
Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders caused by genetic defects in the immune system and exhibit a variety of clinical manifestations, including recurrent infections. Rapid and proper diagnosis is vital for proper therapeutic intervention. Compared to the conventional lymphocyte subset analysis, the standardized Primary Immunodeficiency Orientation Tube (PIDOT) panel has been proposed to provide a more detailed dissection of lymphocyte subsets according to their differentiation and maturation stages. This helps in screening of a suspected PID sample, and to provide quick guidance regarding further course of testing. Here, we report two cases of PID diagnosed by lymphocyte subset analysis using PIDOT panel to establish its usefulness in a clinical laboratory.
참고문헌 (13)
- Tangye SG, "Human inborn errors of immunity : 2019 update on the classification from the International Union of Immunological Societies Expert Committee", J Clin Immunol, 40, pp.24~64 (2020)
- Abolhassani H, "Global systematic review of primary immunodeficiency registries", Expert Rev Clin Immunol, 16, pp.717~732 (2020)
- 임정우, "Prevalence of Primary Immunodeficiency in Korea", Journal of Korean Medical Science, 27(7), pp.788~793 (2012), 대한의학회[DOI]
- Leiding JW, "Mechanism-based precision therapy for the treatment of primary immunodeficiency and primary immunodysregulatory diseases", J Allergy Clin Immunol Pract, 7, pp.761~773 (2019)
- Aguilar C, "Prevention of infections during primary immunodeficiency", Clin Infect Dis, 59, pp.1462~1470 (2014)
- Long PM, "Henry’s clinical diagnosis and management by laboratory methods", pp.984~992 (2017), Elsevier
- Abraham RS, "Flow cytometry, a versatile tool for diagnosis and monitoring of primary immunodeficiencies", Clin Vaccine Immunol, 23, pp.254~271 (2016)
- van der Burg M, "The EuroFlow PID Orientation Tube for flow cytometric dDiagnostic screening of primary immunodeficiencies of the lymphoid system", Front Immunol, 10, pp.246~ (2019)
- Ding Y, "Reference values for peripheral blood lymphocyte subsets of healthy children in China", J Allergy Clin Immunol, 142, pp.970~973 (2018)
- Warnatz K, "Severe deficiency of switched memory B cells(CD27(+)IgM(-)IgD(-))in subgroups of patients with common variable immunodeficiency : a new approach to classify a heterogeneous disease", Blood, 99, pp.1544~1551 (2002)
- Del Pino-Molina L, "Dissection of the pre-germinal center B-cell maturation pathway in common variable immunodeficiency based on standardized fFlow cytometric EuroFlow tools", Front Immunol, 11, pp.603972~ (2021)
- Delmonte OM, "RAG deficiency : two genes, many Diseases", J Clin Immunol, 38, pp.646~655 (2018)
- Kalina T, "EuroFlow standardized approach to diagnostic immunopheneotyping of severe PID in newborns and young children", Front Immunol, 11, pp.371~ (2020)