title: DOCK8 deficiency in a boy who presented with a giant aortic aneurysm between aortic root and iliac bifurcation.
abstract: Dedicator of cytokinesis 8 protein (DOCK8) deficiency is an autosomal recessive, inherited form of hyper-immunoglobulin E (hyper-IgE) syndrome, characterized by persistent cutaneous viral infections, elevated IgE, eosinophilia, and allergic manifestations. The case of a 10-year-old boy who presented with giant aortic aneurysm between the aortic root and iliac bifurcation is described in the present report. Aortic aneurysm of this size has not yet been reported.
authors.affiliation: Department of Pediatric Immunology, Erciyes University Faculty of Medicine, Kayseri, Turkey.
authors.forename: Türkan
authors.initials: T
authors.lastname: Patıroğlu
authors.affiliation: Department of Pediatric Immunology, Erciyes University Faculty of Medicine, Kayseri, Turkey. himmetakar@gmail.com.
authors.forename: Himmet Haluk
authors.initials: HH
authors.lastname: Akar
authors.affiliation: Department of Pediatric Radiology, Erciyes University Faculty of Medicine, Kayseri, Turkey.
authors.forename: Mehmet Sait
authors.initials: MS
authors.lastname: Doğan
authors.affiliation: Department of Pediatric Cardiology, Erciyes University Faculty of Medicine, Kayseri, Turkey.
authors.forename: Kazım
authors.initials: K
authors.lastname: Üzüm
mesh_terms: D001014:Aortic Aneurysm; D002648:Child; D003241:Consanguinity; D017353:Gene Deletion; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007589:Job Syndrome; D008297:Male
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors