Grave aortic aneurysmal dilatation in DOCK8 deficiency. Issue 4 (July 2014)

• Record Type: Journal Article
• Authors: Al Mutairi, Muna; Al-Mousa, Hamoud; AlSaud, Bander; Hawwari, Abbas; AlJoufan, Mansour; AlWesaibi, Abdulkarim; AlHalees, Zohair; Al-Mayouf, Sulaiman M.
• Is Part Of: Modern rheumatology. Volume 24:Issue 4(2014)
• Page Start: 690
• Page End: 693
• Publication Date: 2014-07
• Subjects: Rheumatology -- Periodicals; 616.723005
• DOI: 10.3109/14397595.2013.874735
• Languages: English
• ISSNs: 1439-7595

Abstract

<abstract> <title>Abstract</title> <p>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.</p> </abstract>