SavedAdd your journal

Journals / Türk Kardiyoloji Derneği Arşivi / 2016 / Cilt: 44 - Sayı: 4

DOCK8 eksikliği olan bir olguda aort kökü ile iliyak bifurkasyon arasında dev aort anevrizması

DOCK8 deficiency in a boy who presented with a giantaortic aneurysm between aortic root and iliac bifurcation

Türkan PATIROĞLU
Mehmet Sait DOĞAN
Kazım ÜZÜM
Himmet Haluk AKAR
Pages
342–345
Publication Date
2022-11-05
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Aortic aneurysm of this size has not yet been reported

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Dedicator of cytokinesis 8 protein (DOCK8) deficiency is an autosomal recessive, inherited form of hyper-immunoglobulin E (hyper-IgE) syndrome, characterized by persistent cutaneous viral infections, elevated IgE, eosinophilia, and allergic manifestations.
📊
Key Findings & Data:The case of a 10-year-old boy who presented with giant aortic aneurysm between the aortic root and iliac bifurcation is described in the present report.
💡
Conclusion & Impact:Aortic aneurysm of this size has not yet been reported
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Dedicator of cytokinesis 8 protein (DOCK8) deficiency is an autosomal recessive, inherited form of hyper-immunoglobulin E (hyper-IgE) syndrome, characterized by persistent cutaneous viral infections, elevated IgE, eosinophilia, and allergic manifestations. The case of a 10-year-old boy who presented with giant aortic aneurysm between the aortic root and iliac bifurcation is described in the present report. Aortic aneurysm of this size has not yet been reported

Özet

"Dedicator of cytokinesis 8" (DOCK8) eksikliği otozo- mal resesif geçişli hiper IgE sendromu formu olup, diretken viral enfeksiyonlar, IgE seviyelerinde yükselme, eozinofili ve allerjik semptomlarla kendini gösterir. Bu yazıda, 10 ya- şında DOCK8 eksikliği olan bir hastada aort kökü ile iliyak bifurkasyon arasında dev aort anevrizması ile karşımıza çı- kan bir olgu sunuldu. DOCK8 eksikliği olan bir olguda bu boyutlara ulaşmış dev bir aort anevrizması daha önce lite- ratürde yayınlanmamıştır

🔖

Cite This Article

PATIROĞLU, T., DOĞAN, M. S., ÜZÜM, K., AKAR, H. H. (2022). DOCK8 eksikliği olan bir olguda aort kökü ile iliyak bifurkasyon arasında dev aort anevrizması. Türk Kardiyoloji Derneği Arşivi, Cilt: 44 - Sayı: 4, 342–345. https://ajindex.com/articles/632451

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (9)

  1. Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulai- nen L, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol 2015;35:189-98.
  2. Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 2015;136:402-12.
  3. Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropoli- tanska-Pliszka E, Breborowicz A, Gerreth K. The hyperim- munoglobulin E syndrome-clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis 2011;6:76. Keles S, Jabara HH, Reisli I, McDonald DR, Barlan I, Han- na-Wakim R, et al. Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-? 2b therapy. J Allergy Clin Immunol 2014;133:1753-5.
  4. Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syn- drome. Arch Dermatol 2012;148:79-84.
  5. Tsuge I, Ito K, Ohye T, Kando N, Kondo Y, Nakajima Y, et al. Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient. Pediatr Pulmonol 2014;49:52-5.
  6. Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Er- soy-Evans S, et al. Additional diverse findings expand the clinical presentation of DOCK8 deficiency. J Clin Immunol 2012;32:698-708.
  7. Sabry A, Hauk PJ, Jing H, Su HC, Stence NV, Mirsky DM, et al. Vaccine strain varicella-zoster virus-induced central ner- vous system vasculopathy as the presenting feature of DOCK8 deficiency. J Allergy Clin Immunol 2014;133:1225-7.
  8. Sowerwine KJ, Holland SM, Freeman AF. Hyper-IgE syn- drome update. Ann N Y Acad Sci 2012;1250:25-32.
  9. Al Mutairi M, Al-Mousa H, AlSaud B, Hawwari A, AlJoufan M, AlWesaibi A, et al. Grave aortic aneurysmal dilatation in DOCK8 deficiency. Mod Rheumatol 2014;24:690-3.