Az áramlási citometria jelentosége a haemophagocytás lymphohistiocytosis diagnosztikájában egy fatális kimenetelu eset bemutatása kapcsán

Translated title of the contribution: Flow cytometry in the diagnosis of hemophagocytic lymphohistiocytosis

E. Pállinger, Dániel Erdélyi, Gábor Kovács, Gergely Kriván, Zsuzsanna Korponay, G. Fekete, András Szabó, A. Falus, Beáta Dérfalvi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Hemophagocytic lymphohistiocytosis is a multisystem inflammation, generated by the uncontrolled and excessive activation of cytotoxic T lymphocytes and natural killer cells. Severe immunodeficiency and generalized macrophage activation can often be detected in the background of this life threatening disorder. It is classified as a primary immunodeficiency. Functional abnormalities of the perforin protein or defects in granule secretory mechanisms are caused by gene mutations in most cases. Diagnostic criteria of hemophagocytic lymphohistiocytosis are the following: fever, splenomegaly, cytopenias affecting at least two of the 3 lineages in peripheral blood, hypertriglyceridemia and hyperferritinemia, elevated serum level of soluble interleukin-2 receptor (sCD25), hypofibrinogenemia, hemophagocytosis in bone marrow and decreased cytotoxic T cell and natural killer cell activity. In this case report the authors summarize the utility of functional flow cytometry in the diagnosis of hemophagocytic lymphohistiocytosis. Using flow cytometry, elevated intracellular perforin content, decreased killing activity of cytotoxic T cells and natural killer cells, and impaired cell surface expression of CD107a (LAMP1 protein) from in vitro stimulated blood lymphocytes were detected. Abnormal secretion of perforin was also demonstrated. Genetic testing revealed mutation of the MUNC 13-4 gene, which confirmed the base of the abnormal flow cytometric findings. This case report demonstrates the value of functional flow cytometry in the rapid diagnosis of genetically determined hemophagocytic lymphohistiocytosis, a condition in which early diagnosis is critical for optimal management. The authors emphasize the significance of functional flow cytometry in the differential diagnosis of immunodeficiencies.

Original languageHungarian
Pages (from-to)389-395
Number of pages7
JournalOrvosi Hetilap
Volume155
Issue number10
DOIs
Publication statusPublished - Mar 1 2014

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Hemophagocytic Lymphohistiocytosis
Perforin
Flow Cytometry
Natural Killer Cells
Lysosomal-Associated Membrane Protein 1
T-Lymphocytes
Mutation
Macrophage Activation
Hypertriglyceridemia
Interleukin-2 Receptors
Splenomegaly
Secretory Vesicles
Genetic Testing
Cytotoxic T-Lymphocytes
Genes
Early Diagnosis
Differential Diagnosis
Fever
Bone Marrow
Lymphocytes

ASJC Scopus subject areas

  • Medicine(all)

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Az áramlási citometria jelentosége a haemophagocytás lymphohistiocytosis diagnosztikájában egy fatális kimenetelu eset bemutatása kapcsán. / Pállinger, E.; Erdélyi, Dániel; Kovács, Gábor; Kriván, Gergely; Korponay, Zsuzsanna; Fekete, G.; Szabó, András; Falus, A.; Dérfalvi, Beáta.

In: Orvosi Hetilap, Vol. 155, No. 10, 01.03.2014, p. 389-395.

Research output: Contribution to journalArticle

Pállinger, E. ; Erdélyi, Dániel ; Kovács, Gábor ; Kriván, Gergely ; Korponay, Zsuzsanna ; Fekete, G. ; Szabó, András ; Falus, A. ; Dérfalvi, Beáta. / Az áramlási citometria jelentosége a haemophagocytás lymphohistiocytosis diagnosztikájában egy fatális kimenetelu eset bemutatása kapcsán. In: Orvosi Hetilap. 2014 ; Vol. 155, No. 10. pp. 389-395.
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