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Whole genome microarray expression analysis in blood identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia
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2018 (Engelska)Ingår i: Clinical and Experimental Immunology, ISSN 0009-9104, E-ISSN 1365-2249, Vol. 191, nr 2, s. 240-251Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

A child, 2 years with the hypercalprotectinaemia with hyperzincaemia' clinical syndrome, presented with atypical symptoms and signs, notably persistent fever of approximately 38 degrees C, thrombocythaemia of >700x10(9)/l and a predominance of persistent intestinal symptoms. In an effort to find a cure by identifying the dysregulated pathways we analysed whole-genome mRNA expression by the Affymetrix HG U133 Plus 20 array in blood on three occasions 3-5 months apart. Major up-regulation was demonstrated for the Janus kinase/signal transducer and activators of transcription (JAK/STAT) pathway including, in particular, CD177, S100A8, S100A9 and S100A12, accounting for the thrombocytosis; a large number of interleukins, their receptors and activators, accounting for the febrile apathic state; and the high mobility group box 1 (HMBG1) gene, possibly accounting for part of the intestinal symptoms. These results show that gene expression array technology may assist the clinician in the diagnostic work-up of individual patients with suspected syndromal states of unknown origin, and the expression data can guide the selection of optimal treatment directed at the identified target pathways.

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2018. Vol. 191, nr 2, s. 240-251
Nyckelord [en]
expression array, fever, hypercalprotectinaemia, hyperzincaemia, thrombocytaemia
Nationell ämneskategori
Immunologi inom det medicinska området
Identifikatorer
URN: urn:nbn:se:umu:diva-144081DOI: 10.1111/cei.13064ISI: 000419624200012PubMedID: 28984903OAI: oai:DiVA.org:umu-144081DiVA, id: diva2:1179206
Tillgänglig från: 2018-01-31 Skapad: 2018-01-31 Senast uppdaterad: 2018-06-09Bibliografiskt granskad

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Nilsson, Torbjörn K.

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