Naslov
Familial hemophagocytic lymphohistiocytosis type 3 due to UNC13D mutation

Autori
Jakovljević, Gordana ; Gagro, Alenka ; Barišić, Ingeborg ; Stepan, Jasminka ; Bonevski, Aleksandra ; Rimac, Milan ; Mikecin, Lily ; Škarić, Ivančica ; Nakić, Melita

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
Paediatria Croatica, Supplement 2 / Ingeborg Barišić - Zagreb : Denona, 2009, 42-42

Skup
8th Balkan Meeting on Human Genetics

Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Familial hemophagocytic lymphohistiocytosis; NK cells; perforin; PRF1; UNCD13D; STX11

Sažetak
Familial hemophagocytic lymphohistiocytosis (FHLH) is a rare but potentially fatal disease characterized by nonmalignant aggressive proliferation of activated macrophages, lymphocytes and histiocytes that usually appears in infancy. Chemotherapy and allogenic hematopoietic stem cell transplantation are needed. We describe a 3-month old male infant with no positive family history for FHLH in whom the diagnosis was made according to diagnostic guidelines for hemophagocytic lymphohistiocytosis (HLH 2004 protocol). These included fever, hepatosplenomegaly, cytopenias (thrombocytopenia, anemia, leucopenia), hypertriglyceridemia, hypofibrinogenemia, hyperferritinemia, and hemophagocytosis in bone marrow and central nervous system disease. Underlying conditions such as coexisting infections, malignant disease, metabolic disease were all excluded. Patient had decreased frequency of NK cells, low NK cell activity (defective cytotoxicity, deficient NK cell degranulation). Intracellular perforin expression in peripheral blood mononuclear cells determined by flow cytometry was within the age-dependent reference range. As molecular diagnosis of the known mutations in genes PRF1, UNCD13D, and STX11 showed a mutation in UNC13D gene, the diagnosis of familial hemophagocytic lymphohistiocytosis type 3 was established. The patient is on HLH-2004 chemotherapy protocol, and after initial therapy he achieved partial remission with residual CNS disease. He has no available HLA-identical related donor, so a search for a matched unrelated donor using international HLA registries is underway.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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