J

 

Job sendromu (hiperimmunoglobulin E - otosomal dominant tip; Buckley sendromu)

Kalıtsal -AD/AR

Nötrofil ve monositlerde kemotaksis defekti

Lenfosit duyarsızlığı

Hiperimmunoglobulinemi E

Eozinofili

Bebeklik döneminde beliren ekzema

Deri abseleri (soğuk stafilokok abseleri; deri, lenf düğümü)

Üst solunum yolları

Kulak infeksiyonları

Gözler çukurda

Yayvan burun

Kulak anomalileri

Asimetrik-garip yüz yapısı

Yüz hipoplazisi (orta bölüm)

Alt dudak kalın

Çukur damak

Süt dişleri persistansı

Stomatit (aftlı)

Gingivitis

Periodontal patolojiler

Oral Candida infeksiyonu

Vaginal Candida infeksiyonları

Lenfadenit ve irinlenmeler

Akciğer infeksiyonları

Bronşiektazi

Osteoporoz

Skolyoz

 

  • Eberting CL, Davis J, Puck JM, et al. Dermatitis and the newborn rash of hyper-IgE syndrome. Archives of Dermatology, 140:1119–1125, 2004

  • Freeman AF, Collura-Burke CJ, Patronas NJ, et al. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics, 119(5):e1121-1125, 2007

  • Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the hyper-IgE syndrome. New England Journal of Medicine, 57: 1608-1619, 2007

  • Milner JD, Brenchley JM, Laurence A, et al. Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature, 452: 773-776, 2008

  • Domingo DL, Freeman AF, Davis J, et al. Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome. Oral Diseases, 2008;14:73–81, 2008

  • Woellner C, Gertz EM, Schaffer AA, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. Journal of Allergy & Clinical Immunology, 125:424–432, 2010

  • Siegel AM, Heimall J, Freeman AF, et al. A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. Immunity, 35:806–818, 2011    

  • Chandesris MO, Melki I, Natividad A, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore), 91(4):e1-19, 2012

  • Berglund LJ, Avery DT, Ma CS, et al. IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts. Blood, 122: 3940-3950, 2013

  • Farmand S, Sundin M. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Current Opinion in Hematology, 22(1):12-22, 2015