Whole genome microarray expression analysis in blood leucocytes identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia

Isaksson, Helena S.,1978-Örebro universitet,Institutionen för medicinska vetenskaper,Department of Laboratory Medicine, Faculty of Health and Medical Sciences, Örebro University, Örebro, Sweden (författare)

A child, 2 years with the "hypercalprotectinemia with hyperzincemia" clinical syndrome presented with atypical symptoms and signs, notably persistent fever of around 38°C, thrombocythaemia of >700 x 10(9) /L, and a predominance of persistent intestinal symptoms. In an effort to find a cure by identifying the dysregulated pathways we analyzed whole-genome mRNA expression by the Affymetrix HG U133 PLUS 2.0 array on three occasions 3 to 5 months apart. Major upregulation was demonstrated for the 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 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 workup 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.

Farkas, Sanja A.,1983-Örebro universitet,Institutionen för hälsovetenskaper,Region Örebro län,Department of Laboratory Medicine, Örebro University Hospital, Örebro, Sweden(Swepub:oru)sfs (författare)
Müller, PatrickAffymetrix core facility at Novum, BEA, Karolinska Institute, Huddinge, Sweden (författare)
Gustafsson, DanDepartment of Pediatrics, Örebro University Hospital, Örebro, Sweden; Faculty of Health and Medical Sciences, Örebro University, Örebro, Sweden (författare)
Nilsson, Torbjörn, K.,1956-Department of Medical Biosciences, Clinical Chemistry, Umeå University, Umeå, Sweden (författare)
Örebro universitetInstitutionen för medicinska vetenskaper (creator_code:org_t)

Ingår i:Clinical and Experimental Immunology: Wiley-Blackwell Publishing Inc.191:2, s. 240-2510009-91041365-2249

Av författaren/redakt...: Isaksson, Helena ...; Farkas, Sanja A. ...; Müller, Patrick; Gustafsson, Dan; Nilsson, Torbjör ...

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