Literature record
Grave aortic aneurysmal dilatation in DOCK8 deficiency.
PMID 24517560 | DOI 10.3109/14397595.2013.874735 · Modern rheumatology · 2014
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.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DOCK8 | “Grave aortic aneurysmal dilatation in DOCK8 deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “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.” | 0.98 | hgnc_dict_v1 |