Background and aim The 22q11.2 deletion syndrome (DS), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1 in 4000 births. These patients may suffer from disorders of many organ systems, but cardiac malformations, thymic hypoplasia/aplasia, hypoparathyroidism, cleft palate and psychiatric disorders are most frequent. In addition, the incidence of autoimmune diseases is increased in older patients. The reason for the latter is not known.
Methods Only patients with a proven deletion of chromosome 22q11.2 by in situ hybridization (FISH) test or multiplex ligation-dependent probe amplification assay (MLPA) was included in the study. Age and sex matched healthy controls were included. Serum levels of 27 cytokines, chemokines and growth factors were analysed using a multiplex cytokine assay. For comparison of two groups, the Mann-Whitney U test was used.
Results 22q11.2 DS patients had significantly raised serum levels of interferon-inducible protein 10 (IP-10) compared with healthy controls. In contrast, there was no significant difference in the serum levels of the other cytokines, chemokines and growth factors between 22q11.2 DS and healthy controls.
Conclusion Our finding suggest that IP-10, which has been shown to contribute to the development of autoimmune diseases, might play a significant role in the pathogenesis of 22q11.2 DS.