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Title: Familial Hemophagocytic Lymphohistiocytosis Caused by Perforin Deficiency in Brazilian Twins
Authors: JACOB, Cristina Miuki AbeSANTOS, Cristiane de Jesus Nunes dosSAINT-BASILE, Genevieve deCASTRO, Ana Paula B. MoschionePASTORINO, Antonio CarlosFERNANDES, Juliana FolloniROCHA, VandersonCARNEIRO-SAMPAIO, Magda M. Sales
Citation: JOURNAL OF CLINICAL IMMUNOLOGY, v.32, n.2, p.401-402, 2012
Abstract: Two female monozygotic twins presented: Case1-at2mo presented fever and vomiting after vaccination with DTP, Haemophilus, Salk, Rotavirus. The initial evaluation showed: anemia, hepatosplenomegaly, pancytopenia, LDH=0760 U/L, ferritin=0622 ng/mL and triglycerides=0362 mg/dL. Hemophagocytosis was found in bone marrow. Case2: clinically asymptomatic, being detected anemia, LDH=0726 U/L, ferritin=0436 ng/mL, triglycerides=0166 mg/dL, without hemophagocytosis. Infections were excluded in both. Molecular testing identified two heterozygous mutations in the perforin gene, C46T leading to P16S and 50delT leading to L17 stop, making the diagnosis of FHL type 2. Both twins underwent to therapy based on HLH-2004 protocol followed by cord blood transplantation and after CMV infection with a good response to treatment. FHL should be suspected in all children with fever, visceromegaly and cytopenias for early treatment, including hematopoietic stem cell transplantation.
Appears in Collections:Comunicações em Eventos - FM/MPE
Comunicações em Eventos - HC/ICr
Comunicações em Eventos - LIM/36

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