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Measurement of Pulse Propagation Velocity, Distensibility and Strain in an Abdominal Aortic Aneurysm Mouse Model
Published on: February 23, 2020
Grave aortic aneurysmal dilatation in DOCK8 deficiency
Muna Al Mutairi1, Hamoud Al-Mousa, Bander AlSaud
1Department of Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center , Riyadh , Kingdom of Saudi Arabia.
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.
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