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Related Experiment Video

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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.

Modern Rheumatology
|February 13, 2014
PubMed
Summary

Hyperimmunoglobulin E syndrome (HIES) can cause serious vascular issues. A child with DOCK8 deficiency-related HIES developed a critical aortic aneurysm, successfully treated with surgery.

Keywords:
AneurysmAortaDOCK8Hyperimmunoglobulin E syndromeVasculitis

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Area of Science:

  • Immunology
  • Cardiovascular Medicine
  • Genetics

Background:

  • Hyperimmunoglobulin E syndrome (HIES) is a primary immunodeficiency characterized by multisystem abnormalities, including vascular complications.
  • Autosomal recessive HIES (AR-HIES) can be caused by dedicator of cytokinesis 8 (DOCK8) deficiency, impacting immune function and potentially other systems.

Observation:

  • A pediatric patient with AR-HIES due to DOCK8 deficiency presented with a critical aortic aneurysm.
  • The aneurysm involved the ascending aorta and aortic arch, with concomitant narrowing of the descending aorta.

Findings:

  • Surgical intervention successfully managed the critical aortic aneurysm in the affected child.
  • This case underscores the potential for severe vascular complications in DOCK8 deficiency.

Implications:

  • DOCK8 deficiency should be considered in patients presenting with unexplained aortic aneurysms, particularly those with immunodeficiency.
  • Early recognition and management of vascular complications in DOCK8 deficiency are crucial for improving patient outcomes and reducing morbidity/mortality.