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10.1186/s12969-015-0043-7 http://scihub22266oqcxt.onion/10.1186/s12969-015-0043-7 C4647814!4647814 !26572973     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=26572973 &cmd=llinks): Failed to open stream: HTTP request failed! 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Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndrome |pdf=|usr=}}{{26572973 }} gab.com Text Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndrome JO: Pediatr Rheumatol Online J http://www.kidney.de/pget.php?&tw=1&pmid=26572973 #FOAvip BACKGROUND: Primary haemophagocytic lymphohistiocytosis (HLH) screening assays are increasingly being performed in patients presenting with macrophage activation syndrome (MAS). The objective of this study was to describe their diagnostic and prognostic relevance in children who had presented to paediatric rheumatology and had undergone investigative work up for MAS. METHODS: Data was obtained retrospectively from an existing protein screening assay database and patient records. Assays included: intracellular expression of perforin in CD56+ Natural Killer (NK) cells; CD107a Granule Release Assay (GRA) in response to PHA in NK cells, or anti-CD3 stimulation of CD8 lymphocytes; in males Signal Lymphocyte Activating Molecule Associated Protein (SAP), and X-linked Inhibitor of Apoptosis Protein (XIAP) expression. All assays, requested by paediatric rheumatology, of children who had undergone investigative work up for MAS over a 5-year period (2007-2011) were included. RESULTS: Twenty-one patients (15 female), median age 6.5 years (range 0.6-16) with follow-up of 16 months (range 1-51), were retrospectively identified. At presentation, 3/21 (14 %) fulfilled HLH-2004 diagnostic criteria. At least one screening test result was available for all 21 patients; 7/21 (33 %) had at least one persistent screening test abnormality. Of this group 4/7 (57 %) died or required haematopoietic stem cell transplantation (HSCT), compared to 1/14 (7 %) with no screening test abnormality (p?=?0.025). 3/21 (14 %) ultimately had a diagnosis of primary HLH (two confirmed genetically; XIAP, familial HLH type 3, and one confirmed clinically). Of the six patients with abnormal GRA 5/6 had negative routine genetic results. CONCLUSIONS: Screening for primary HLH is warranted for children whose first rheumatological presentation is with MAS, since overall 14 % had an eventual diagnosis of primary HLH. A persistently abnormal GRA in patients presenting with MAS defines a high-risk group with poor outcome (mortality or HSCT), possibly due to as yet unidentified genetic cause. Twit Text FOAVip Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndrome ????Pediatr Rheumatol Online J http://www.kidney.de/pget.php?&tw=1&pmid=26572973 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26572973 #FOAvip English Wikipedia <ref>{{Cite pmid|26572973 }}</ref> Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndrome #MMPMID26572973 Cruikshank M ; Anoop P ; Nikolajeva O ; Rao A ; Rao K ; Gilmour K ; Eleftheriou D ; Brogan PA Pediatr Rheumatol Online J 2015[Nov]; 12 Suppl 1 (ä): 48 PMID26572973 show ga BACKGROUND: Primary haemophagocytic lymphohistiocytosis (HLH) screening assays are increasingly being performed in patients presenting with macrophage activation syndrome (MAS). The objective of this study was to describe their diagnostic and prognostic relevance in children who had presented to paediatric rheumatology and had undergone investigative work up for MAS. METHODS: Data was obtained retrospectively from an existing protein screening assay database and patient records. Assays included: intracellular expression of perforin in CD56+ Natural Killer (NK) cells; CD107a Granule Release Assay (GRA) in response to PHA in NK cells, or anti-CD3 stimulation of CD8 lymphocytes; in males Signal Lymphocyte Activating Molecule Associated Protein (SAP), and X-linked Inhibitor of Apoptosis Protein (XIAP) expression. All assays, requested by paediatric rheumatology, of children who had undergone investigative work up for MAS over a 5-year period (2007-2011) were included. RESULTS: Twenty-one patients (15 female), median age 6.5 years (range 0.6-16) with follow-up of 16 months (range 1-51), were retrospectively identified. At presentation, 3/21 (14 %) fulfilled HLH-2004 diagnostic criteria. At least one screening test result was available for all 21 patients; 7/21 (33 %) had at least one persistent screening test abnormality. Of this group 4/7 (57 %) died or required haematopoietic stem cell transplantation (HSCT), compared to 1/14 (7 %) with no screening test abnormality (p?=?0.025). 3/21 (14 %) ultimately had a diagnosis of primary HLH (two confirmed genetically; XIAP, familial HLH type 3, and one confirmed clinically). Of the six patients with abnormal GRA 5/6 had negative routine genetic results. CONCLUSIONS: Screening for primary HLH is warranted for children whose first rheumatological presentation is with MAS, since overall 14 % had an eventual diagnosis of primary HLH. A persistently abnormal GRA in patients presenting with MAS defines a high-risk group with poor outcome (mortality or HSCT), possibly due to as yet unidentified genetic cause. äScreening assays for primary haemophagocytic lymphohistiocytosis in ch(epmc).pdf DeepDyve Pubget Overpricing