129
Views
5
CrossRef citations to date
0
Altmetric
Case Reports

Grave aortic aneurysmal dilatation in DOCK8 deficiency

, , , , , , & show all
Pages 690-693 | Received 28 Aug 2012, Accepted 13 Dec 2012, Published online: 11 Feb 2014

References

  • Paulson M, Freeman A, Holland S. Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. Curr Opin Allergy Clin Immunol. 2008;8: 527–533
  • Grimbacher B, Holland S, Puck J. Hyper-IgE syndromes. Immunol Rev. 2005;203: 244–250
  • Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448: 1058–1062
  • Zhang Q, Davis J, Lamborn I, Freeman A, Jing H, Favreau A et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361: 2046–2055
  • Engelhardt K, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G et al. Large Deletions and point mutations involving DOCK8 in the autosomal recessive form of the Hyper-IgE syndrome. J Allergy Clin Immunol. 2009;124: 1289–1302
  • Renner E, Puck J, Holland S, Schmitt M, Weiss M, Frosch M et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004;144: 93–99
  • Minegishi Y, Saito M, Morio T et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25: 745–755
  • Yavuz H, Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin Exp Immunol. 2010;159: 238–244.
  • Grimbacher B, Schäffer A, Holland S, Davis J, Gallin J, Malech H et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999;65: 735–744
  • Freeman A, Avila E, Shaw P, Davis J, Hsu A, Welch P et al. Coronary artery abnormalities in Hyper-IgE syndrome. J Clin Immunol. 2011;31: 338–345
  • Falah O, Thwaites S, Chalmers R. Ruptured thoracoabdominal aneurysm in a 27-year-old with hyper IgE syndrome. J Vasc Surg. 2012;55: 830–832
  • Van der meer J, Weemaes C, van Krieken J, Blomjous C, van Die C, Netea M et al. Critical aneurysmal dilatation of the thoracic aorta in young adolescents with variant Hyperimmunoglobin E syndrome. J Intern Med 2006;259:615–8.
  • Su H. Dedicator of cytokinesis 8 (DOCK8) deficiency. Curr Opin Allergy Clin Immunol. 2010;10: 515–520
  • Harada Y, Tanaka Y, Terasawa M, Pieczyk M, Habiro K, Katakai T et al. DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. Blood. 2012;119: 4451–4461
  • Zhang Q, Davis J, Dove C, Su H et al. Genetic, clinical and laboratory markers for Dock8 immunodeficiency syndrome. Dis Markers. 2010;29: 131–139.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.