Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Sep 11:10:2111.
doi: 10.3389/fimmu.2019.02111. eCollection 2019.

Flow Cytometry for Diagnosis of Primary Immune Deficiencies-A Tertiary Center Experience From North India

Affiliations
Review

Flow Cytometry for Diagnosis of Primary Immune Deficiencies-A Tertiary Center Experience From North India

Amit Rawat et al. Front Immunol. .

Abstract

Flow cytometry has emerged as a useful technology that has facilitated our understanding of the human immune system. Primary immune deficiency disorders (PIDDs) are a heterogeneous group of inherited disorders affecting the immune system. More than 350 genes causing various PIDDs have been identified. While the initial suspicion and recognition of PIDDs is clinical, laboratory tools such as flow cytometry and genetic sequencing are essential for confirmation and categorization. Genetic sequencing, however, are prohibitively expensive and not readily available in resource constrained settings. Flow cytometry remains a simple, yet powerful, tool for multi-parametric analysis of cells. While it is confirmatory of diagnosis in certain conditions, in others it helps in narrowing the list of putative genes to be analyzed. The utility of flow cytometry in diagnosis of PIDDs can be divided into four major categories: (a) Enumeration of lymphocyte subsets in peripheral blood. (b) Detection of intracellular signaling molecules, transcription factors, and cytokines. (c) Functional assessment of adaptive and innate immune cells (e.g., T cell function in severe combined immune deficiency and natural killer cell function in familial hemophagocytic lymphohistiocytosis). (d) Evaluation of normal biological processes (e.g., class switching in B cells by B cell immunophenotyping). This review focuses on use of flow cytometry in disease-specific diagnosis of PIDDs in the context of a developing country.

Keywords: clinical applications; flow cytometry; immune deficiencies; immune dysregulation; primary immunodefciencies; recent advances.

PubMed Disclaimer

Figures

Figure 1
Figure 1
An overview of development of flow cytometry services for PIDs at our center. (A) Timeline showing the establishment of flow cytometry tests in the laboratory. (B) Timeline showing the increase in manpower and support for the laboratory services. (C) Bar graph showing the number of flow cytometry tests for PIDs performed in our laboratory in the last 5 years (#Data available from August 2015 to December 2015/*Data available from January 2019 to July 2019).

Similar articles

Cited by

  • Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.
    Sharma S, Basu S, Goyal T, Sharma M, Barman P, Kaur G, Shandilya JK, Vignesh P, Pilania RK, Jindal AK, Dhaliwal M, Bhatia P, Sreedharanunni S, Rastogi P, Mallik N, Sharma P, Kaur A, Suri D, Rawat A, Singh S. Sharma S, et al. J Clin Immunol. 2025 Jun 19;45(1):108. doi: 10.1007/s10875-025-01895-x. J Clin Immunol. 2025. PMID: 40536602 Free PMC article. Review.
  • Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.
    Rawat A, Vignesh P, Sudhakar M, Sharma M, Suri D, Jindal A, Gupta A, Shandilya JK, Loganathan SK, Kaur G, Chawla S, Patra PK, Khadwal A, Saikia B, Minz RW, Aggarwal V, Taur P, Pandrowala A, Gowri V, Desai M, Kulkarni M, Hule G, Bargir U, Kambli P, Madkaikar M, Bhattad S, Ginigeri C, Kumar H, Jayaram A, Munirathnam D, Sivasankaran M, Raj R, Uppuluri R, Na F, George B, Lashkari HP, Kalra M, Sachdeva A, Seth S, Sabui T, Gupta A, van Leeuwen K, de Boer M, Chan KW, Imai K, Ohara O, Nonoyama S, Lau YL, Singh S. Rawat A, et al. Front Immunol. 2021 Feb 25;12:625320. doi: 10.3389/fimmu.2021.625320. eCollection 2021. Front Immunol. 2021. PMID: 33717137 Free PMC article.
  • Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
    Vignesh P, Rawat A, Kumrah R, Singh A, Gummadi A, Sharma M, Kaur A, Nameirakpam J, Jindal A, Suri D, Gupta A, Khadwal A, Saikia B, Minz RW, Sharma K, Desai M, Taur P, Gowri V, Pandrowala A, Dalvi A, Jodhawat N, Kambli P, Madkaikar MR, Bhattad S, Ramprakash S, Cp R, Jayaram A, Sivasankaran M, Munirathnam D, Balaji S, Rajendran A, Aggarwal A, Singh K, Na F, George B, Mehta A, Lashkari HP, Uppuluri R, Raj R, Bartakke S, Gupta K, Sreedharanunni S, Ogura Y, Kato T, Imai K, Chan KW, Leung D, Ohara O, Nonoyama S, Hershfield M, Lau YL, Singh S. Vignesh P, et al. Front Immunol. 2021 Feb 8;11:619146. doi: 10.3389/fimmu.2020.619146. eCollection 2020. Front Immunol. 2021. PMID: 33628209 Free PMC article.
  • Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific.
    Leung D, Chua GT, Mondragon AV, Zhong Y, Nguyen-Ngoc-Quynh L, Imai K, Vignesh P, Suratannon N, Mao H, Lee WI, Kim YJ, Chan GCF, Liew WK, Huong LTM, Kanegane H, Muktiarti D, Zhao X, Santos-Ocampo FJ, Latiff AHA, Seger R, Ochs HD, Singh S, Lee PP, Lau YL. Leung D, et al. Front Immunol. 2020 Aug 13;11:1605. doi: 10.3389/fimmu.2020.01605. eCollection 2020. Front Immunol. 2020. PMID: 32903579 Free PMC article.
  • Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.
    Tahiat A, Belbouab R, Yagoubi A, Hakem S, Fernini F, Keddari M, Belhadj H, Touri S, Aggoune S, Stoddard J, Niemela J, Zerifi F, Melzi S, Aboura R, Saad-Djaballah A, Ferhani Y, Ketfi A, Messaoudi H, Bencharif Madani T, Benhacine Z, Dehimi A, Okka K, Amroune F, Fellahi M, Bendahmane C, Khoulani R, Oukil A, Soufane A, Bourelaf I, Boubidi C, Boukhenfouf N, Amine Ifri M, Khelafi N, Boudiaf H, Khelifi Touhami T, Meçabih F, Boucelma M, Zelaci A, Gacem O, Ladj MS, Mekki A, Bensaadi N, Benhalima M, Zeroual Z, Bioud B, Benameur M, Bouhdjila R, Bouzerar Z, Ibsaine O, Maouche H, Kedji L, Smati L, Boukari R, Lambert C, Rosenzweig SD, Notarangelo LD, Djenouhat K. Tahiat A, et al. Front Immunol. 2024 Jul 12;15:1402038. doi: 10.3389/fimmu.2024.1402038. eCollection 2024. Front Immunol. 2024. PMID: 39072316 Free PMC article.

References

    1. Adan A, Alizada G, Kiraz Y, Baran Y, Nalbant A. Flow cytometry: basic principles and applications. Crit Rev Biotechnol. (2017) 37:163–76. 10.3109/07388551.2015.1128876 - DOI - PubMed
    1. Kamentsky LA, Melamed MR, Derman H. Spectrophotometer: new instrument for ultrarapid cell analysis. Science. (1965) 150:630–1. 10.1126/science.150.3696.630 - DOI - PubMed
    1. Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, et al. . Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. (2015) 136:1186–205. e1–78. 10.1016/j.jaci.2015.04.049 - DOI - PubMed
    1. Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, et al. . Flow cytometry-based diagnosis of primary immunodeficiency diseases. Allergol Int. (2018) 67:43–54. 10.1016/j.alit.2017.06.003 - DOI - PubMed
    1. Jindal AK, Pilania RK, Rawat A, Singh S. Primary immunodeficiency disorders in India—A situational review. Front Immunol. (2017) 8:714. 10.3389/fimmu.2017.00714 - DOI - PMC - PubMed

Publication types

MeSH terms

LinkOut - more resources