Article
Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
Journal of pediatric hematology/oncology - 1 Oct 2020
Akyol Sefika, Ozcan Alper, Sekine Takuya, Chiang Samuel C C, Yilmaz Ebru, Karakurkcu Musa, Patiroglu Turkan, Bryceson Yenan, Unal Ekrem
Abstract excerpt
Although familial hemophagocytic lymphohistiocytosis (FHL) generally manifest with a combination of unremitting fever, hepatosplenomegaly, and pancytopenia; unusual presentations should also be taken into account. Herein, we present 3 FHL cases with 2 novel mutations with different initial presentations. The first patient bearing a homozygous truncation mutation in UNC13D (c.2650C>T.p.Gln884Ter) presented with...
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