RESUMO
Griscelli syndrome type 2 (GS2) is an autosomal recessive condition associated with the development of hemophagocytic lymphohistiocytosis. GS2 is caused by a gene mutation involving RAB27A, which affects a melanosome anchoring complex in melanocytes and releases cytolytic granules from T cells and natural killer cells. GS2 is known to have immunologic compromise and oculocutaneous albinism. We present the case of 2 sisters who had vastly different phenotypic presentations despite having the same genetic frameshift mutation in the RAB27A gene. Patient 1 presented with seizures and neurological compromise, whereas patient 2 presented with pancytopenia and diarrhea. Both patients developed hemophagocytic lymphohistiocytosis.
Assuntos
Diarreia/patologia , Mutação da Fase de Leitura , Linfo-Histiocitose Hemofagocítica/patologia , Pancitopenia/patologia , Piebaldismo/patologia , Doenças da Imunodeficiência Primária/patologia , Convulsões/patologia , Proteínas rab27 de Ligação ao GTP/genética , Pré-Escolar , Diarreia/complicações , Diarreia/genética , Feminino , Humanos , Lactente , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/genética , Pancitopenia/complicações , Pancitopenia/genética , Piebaldismo/complicações , Piebaldismo/genética , Doenças da Imunodeficiência Primária/complicações , Doenças da Imunodeficiência Primária/genética , Prognóstico , Convulsões/complicações , Convulsões/genética , IrmãosRESUMO
Ehrlichiosis is a tick-borne disease that ranges in severity from asymptomatic infection to fatal sepsis. Ehrlichiosis acquired from transfusion of blood products has not been documented in the literature to date. A case of Ehrlichia ewingii infection likely transmitted by transfusion of leukoreduced platelets is described, and public health implications are discussed.