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. :A haemophagocytás lymphohistiocytosis a citotoxikus T-lymphocyták és a természetes ölősejtek kontrollálatlan aktiválódása és funkcionális zavara, illetve a következményes generalizált macrophagaktiváció miatt kialakuló extrém gyulladással társuló immunszabályozási zavar. Familiáris formájának hátterében a perforin fehérje működését, illetve exocytosisát érintő mutációk állnak. A szerzők egy fatális kimenetelű familiáris haemophagocytás lymphohistiocytosisban szenvedő csecsemő esetén keresztül kívánják bemutatni a funkcionális áramlási citometria jelentőségét. Meghatározták a természetes ölősejtek és a citotoxikus T-lymphocyták perforintartalmát és ölőaktivitását, illetve a perforin szekréciójához nélkülözhetetlen LAMP1 fehérje (CD107a) in vitro stimulációt követő sejtfelszíni expresszióját. Betegüknél csökkent citotoxikus aktivitás és fokozott perforinexpresszió mellett csökkent CD107a-expressziót mutattak ki a lymphocytákon in vitro stimulációt követően, ami a perforinszekréció zavarára utalt. A későbbiekben elvégzett genetikai vizsgálat igazolta a diagnózist: a haemophagocytás lymphohistiocytosis 3-as típusával összefüggésben álló MUNC 13-4 gén mutációját. Az esetbemutatással a szerzők az áramlási citometria jelentőségére kívánják felhívni a figyelmet az immunsejtek funkcionális aktivitásának jellemzésében. Orv. Hetil., 2014, 155(10), 389–395.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Pállinger E,Erdélyi D,Kovács G,Kriván G,Korponay Z,Fekete G,Szabó A,Falus A,Dérfalvi Bdoi
10.1556/OH.2014.29790subject
Has Abstractpub_date
2014-03-09 00:00:00pages
389-95issue
10eissn
0030-6002issn
1788-6120pii
3X7T0447L284176Rjournal_volume
155pub_type
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