title: Grave aortic aneurysmal dilatation in DOCK8 deficiency.
abstract: Hyperimmunoglobulin E syndrome (HIES) is a primary immunodeficiency disorder with multisystem abnormalities including the vascular system. We report a child with autosomal recessive (AR)-HIES secondary to dedicator of cytokinesis 8 (DOCK8) deficiency who developed critical aortic aneurysm involving the ascending aorta and aortic arch with narrowing of descending aorta that was successfully managed surgically. This report highlights the underrecognized and serious complication of DOCK8 deficiency that could contribute to significant morbidity and mortality in such patients.
authors: Department of Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center , Riyadh , Kingdom of Saudi Arabia.
authors: Muna
authors: M
authors: Al Mutairi
authors: Hamoud
authors: H
authors: Al-Mousa
authors: Bander
authors: B
authors: AlSaud
authors: Abbas
authors: A
authors: Hawwari
authors: Mansour
authors: M
authors: AlJoufan
authors: Abdulkarim
authors: A
authors: AlWesaibi
authors: Zohair
authors: Z
authors: AlHalees
authors: Sulaiman M
authors: SM
authors: Al-Mayouf
mesh_terms: D001014:Aortic Aneurysm / Q000150:complications* / Q000601:surgery; D002648:Child; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency*; D006801:Humans; D007589:Job Syndrome / Q000150:complications*; D008297:Male; D016896:Treatment Outcome
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors
keywords: Aneurysm; Aorta; DOCK8; Hyperimmunoglobulin E syndrome; Vasculitis