title: Increased Levels of Interferon-Inducible Protein 10 (IP-10) in 22q11.2 Deletion Syndrome.
abstract: The 22q11.2 deletion syndrome (22q11.2 DS), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:4000 births. These patients may suffer from affection of many organ systems with cardiac malformations, thymic hypoplasia or aplasia, hypoparathyroidism, palate anomalies and psychiatric disorders being the most frequent. The incidence of autoimmune diseases is increased in older patients. The aim of the present study was to examine a cytokine profile in patients with 22q11.2 DS by measuring a broad spectrum of serum cytokines. Patients with a proven deletion of chromosome 22q11.2 (n = 55) and healthy individuals (n = 54) recruited from an age- and sex-comparable group were included in the study. Serum levels of 27 cytokines, including chemokines and growth factors, were analysed using multiplex technology. Interferon-inducible protein 10 (IP-10) was also measured by ELISA to confirm the multiplex results. The 22q11.2 DS patients had distinctly and significantly raised levels of pro-inflammatory and angiostatic chemokine IP-10 (P < 0.001) compared to controls. The patients with congenital heart defects (n = 31) had significantly (P = 0.018) raised serum levels of IP-10 compared to patients born without heart defects (n = 24). The other cytokines investigated were either not detectable or did not differ between patients and controls.
authors.affiliation: Department of Pediatric Research, Women and Children's Division, Oslo University Hospital, Oslo, Norway.
authors.forename: D M
authors.identifier: http://orcid.org/0000-0003-0833-4702
authors.initials: DM
authors.lastname: Aresvik
authors.affiliation: Division of Medicine, Akershus University Hospital, Lørenskog, Norway.|Department of Pediatrics, Women and Children's Division, Oslo University Hospital, Oslo, Norway.
authors.forename: K
authors.initials: K
authors.lastname: Lima
authors.affiliation: Department of Pediatrics, Women and Children's Division, Oslo University Hospital, Oslo, Norway.
authors.forename: T
authors.initials: T
authors.lastname: Øverland
authors.affiliation: Department of Immunology, Oslo University Hospital, Oslo, Norway.|University of Oslo, Oslo, Norway.|Research Laboratory, Nordland Hospital, Bodø, Norway.|K.G. Jebsen TREC, University of Tromsø, Tromsø, Norway.|Center of Molecular Inflammation Research, Norwegian University of Science and Technology, Trondheim, Norway.
authors.forename: T E
authors.initials: TE
authors.lastname: Mollnes
authors.affiliation: Department of Pediatrics, Women and Children's Division, Oslo University Hospital, Oslo, Norway.|University of Oslo, Oslo, Norway.
authors.forename: T G
authors.initials: TG
authors.lastname: Abrahamsen
mesh_terms: D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D054357:Chemokine CXCL10 / Q000378:metabolism*; D018925:Chemokines / Q000097:blood; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis / Q000276:immunology*; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000209:etiology / Q000276:immunology*; D006801:Humans; D007223:Infant; D018836:Inflammation Mediators / Q000378:metabolism; D036341:Intercellular Signaling Peptides and Proteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D055815:Young Adult
chemical_list: D054357:Chemokine CXCL10; D018925:Chemokines; D018836:Inflammation Mediators; D036341:Intercellular Signaling Peptides and Proteins