Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression

摘要: Haemophagocytic lymphohistiocytosis (HLH) is a rare, fatal disorder of early infancy. Mutations the PRF1 gene have been identified in subset patients. However, distinction between different genetically determined and environmental subtypes disease remains major issue to be solved. This may result delayed or inappropriate application bone marrow transplantation (BMT). We propose an algorithm that uses combination three rapid laboratory tests, i.e. perforin expression by peripheral lymphocytes, assessment behaviour 2B4 lymphocyte receptor natural killer (NK) cell activity, identify subgroups HLH. In 19 patients diagnosed according current criteria, we tested expression, function NK activity. mutations were found all seven showing absent expression. one male with abnormal receptor, SH2D1A mutation confirmed diagnosis X-linked lymphoproliferative disease. Four normal activity had evidence associated infections. Of impaired two probable subtype HLH five appeared as sporadic, infection-associated cases. Improving diagnostic approach restrict use BMT, only recognized curative treatment, documented poor prognosis while milder disorders treated less intensively. Our flow chart could also lead better selection for specific analysis.