2017, Number 2
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Rev Cubana Hematol Inmunol Hemoter 2017; 33 (2)
Immunofenotype study by flow citometry for the diagnosis of primary immunodeficiencies
Macías AC
Language: Spanish
References: 21
Page: 1-10
PDF size: 379.86 Kb.
ABSTRACT
Primary immunodeficiencies (PID) are a heterogenous group of diseases, mostly
hereditary or congenital origin, which diagnosis requires the immunological
characterization of cell populations and subpopulations. This review describes the
international current methodology, based on the project called FITMAN (Flow
Immunophenotyping Technical Meeting at National Institute of Health) for cell
characterization that allows defines or forward to correct diagnosis of these entities using benefits of flow cytometry technology. Also, it provides new research options
that allow deeper into the behavior of the immune system in these diseases and their
association with the molecular expression and genetic markers of interest.
REFERENCES
Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles Ch, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol.2014; 22(5):162.
Crestani E, Choo Sh, Frugoni F, Nee Lee Y, Richards S, Joanne Smart J, et al. RAG1 Mosaicismin a Patient with Omenn Syndrome. J Clin Immunol. 2014;34(5):551-4.
Corneo B, Moshous D , Güngör T , Wulffraat N , Philippet P , Le Deist FL , et al. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Blood. 2001;97(9):2772-6.
Boldt A, Borte S , Fricke S , Kentouche K , Emmrich F , Borte M , et al. Eight-color immunophenotyping of T-, B-, and NK- cell subpopulations for characterization of chronic immunodeficiencies. Cytometry B Clin Cytom. 2014 May;86(3):191-206. doi: 10.1002/cyto.b.21162
Van der Burg M & Gennery AR. Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur J Pediatr. 2011;170:561-71.
Van der Burg M. A DNA-PKcs mutation in a radiosensitive T-B-SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest. 2009; 119(1):91-8.
Maecker HT, McCoy JP , Nussenblatt R .Standardizing immunophenotyping for the Human Immunology Project. Nat Rev Immunol. 2012;12(3):191-200.
De Vries E. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists:2011 update. Clin Exp Immunol. 2012;167(1):108-19.
Finak G, Langweiler M, Jaimes M, Malek M, Taghiyar J, Korin Y, et al. Standardizing Flow Cytometry Immunophenotyping Analysis from the Human Immuno Phenotyping Consortium. Sci Rep. 2016 Feb 10;6:20686. doi: 10.1038/srep20686.
Hasan M, Beitz B, Rouilly V, Libri V, Urrutia A, Duffy D, et al. Semi-automated and standardized cytometric procedures for multi-panel and multi-parametric whole blood immunophenotyping. Clin Immunol.2015 Apr; 157(2): 261-76. doi: 10.1016/j.clim.2014.12.008.
Duffy D, Rouilly V, Libri V, Hasan M, Beitz B, David M, et al. Functional Analysis via Standardized Whole-BloodStimulation Systems Defines the Boundaries of a Healthy Immune Response to Complex Stimuli. Immunity. 2014 Mar 20;40(3):436- 50. doi: 10.1016/j.immuni.2014.03.002.
Mateus J, Lasso P, González JM, Puerta CJ, Cuéllar A. Design of a multicolor panel to assess intracellular and surface molecules by flow cytometry. Biomedica 2013. 33(4):660-72.
Farber DL, Yudanin NA, Restifo NP. Human memory T cells: generation, compartmentalization and homeostasis. Nat Rev Immunol. 2014 Jan;14(1):24-35. doi: 10.1038/nri3567.
Romero P, Zippelius A , Kurth I , Pittet MJ , Touvrey C , Iancu EM et al. Four functionally distinct populations of human effector-memory CD8+ T lymphocytes. J Immunol. 2007;178(7):4112-9.
Appay V, van Lier RA , Sallusto F , Roederer M . Phenotype and Function of Human T Lymphocyte Subsets: Consensus and Issues. Cytometry A. 2008 Nov;73(11):975-83. doi: 10.1002/cyto.a.20643.
SalustoF, Lanzavecchia A. Heterogeneity of CD4+ memory T cells: Functional modules for tailored immunity. Eur J Immunol. 2009 Aug;39(8):2076-82. doi: 10.1002/eji.200939722.
Sakaguchi S. Regulatory T cells in the past and for the future. Eur J Immunol. 2008 Apr;38(4):901-37. doi: 10.1002/eji.200890012.
BhattacharyaP, Wuerffel R, Kenter AL. Switch region identity plays an important role in Ig class switch recombination. J Immunol. 2010;184(11):6242-8.
Banchereau J, Briere F, Caux C, Davoust J, Lebecque S, Liu YJ, et al. Immunobiology of dendritic cells. Annu Rev Immunol. 2000;18:767-811.
Jardine L, BargeD, Ames-Draycott A, Pagan S, CooksonSh, Spickett G, et al. Rapid detection of dendritic cell and monocyte disorders using CD4 as a lineage marker of the human peripheral blood antigen-presenting cell compartment.Front Immunol.2013;4:495.
Heinze A, Elze MC, Kloess S, Ciocarlie O, Konigs C, Betz S, et al. Age-matched dendritic cell subpopulations reference values in childhood. Scand J Immunol. 2013;77(3):213-20.