BibTex RIS Kaynak Göster

Hyper-immunglobulin E syndrome in a neonate: A case report

Yıl 2013, Cilt: 3 Sayı: 03, 144 - 146, 01.09.2013
https://doi.org/10.5799/ahinjs.02.2013.03.0098

Öz

İlyas Yolbaş, Velat Şen, Bilal Sula, Lokman Timurağaoğlu, Hasan Balık Hyper-immunoglobulin E syndrome (Job syndrome) is a rare primary immunodeficiency with variable presentation, characterized by recurrent infections, facial dimorphism, eczema, scoliosis, joint hyper-extensibility, pathologic fractures, very high IgE (>2000 IU/mL), severe eosinophilia and variable impaired T cell function. We present a typical case of Hyper-immunoglobulin E syndrome in neonate with review of literature.

Kaynakça

  • Shemer A, Weiss G, Confino Y, Trau H. The hyper-IgE syn- drome. Two cases and review of the literature. Int J Dermatol 2001;40:622-628.
  • Schimke LF, Sawalle-Belohradsky J, Roesler J, et al. Diag- nostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol 2010;126:611- 617.
  • Olaiwan A, Chandesris MO, Fraitag S, et al. Cutaneous find- ings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. J Am Acad Dermatol 2011;65:1167-1172
  • Minegishi Y, Karasuyama H. Defects in Jak–STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency. Int Immunol 2009;21:105-112.
  • Woellner C, Gertz EM, Schδffer AA, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 2010;125:424-432.
  • Eberting CL, Davis J, Puck JM, et al. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol 2004;140:1119-1125.
  • Demirel N, Bas AY, Zenciroglu A. Can necrotizing fasciitis be the first symptom of Hyperimmunoglobulin E syndrome? In- dian J Pediatr 2008;75:1090.
  • Yeganeh M, Gambineri E, Abolmaali K, et al. Other well-de- fined immunodeficiencies. Primary immunodeficiency dis- eases: definition, diagnosis and management. In: Rezaei N, Aghamohammadi A, Notarangelo LD, editors. Berlin: Spring- er; 2008;251-290.

Hyper-immunglobulin E syndrome in a neonate: A case report

Yıl 2013, Cilt: 3 Sayı: 03, 144 - 146, 01.09.2013
https://doi.org/10.5799/ahinjs.02.2013.03.0098

Öz

Hiper-immunglobulin E sendromu (Job Sendromu), genellikle çok yüksek IgE (> 2000 IU/ml) seviyesi, şiddetli eozinofili, soğuk stafilokok cilt absesi ve pnömoni gibi tekrarlayan enfeksiyonlar, egzama, skolyoz, eklem hiperekstansibilitesi, patolojik kırıklar, tipik bir yüz görünümü, kraniyosinostoz ve değişken bozulmuş T hücre fonksiyonu ile karakterize nadir görülen primer immün yetmezlik durumudur. Hiper-immunglobulin E sendromu yenidoğan ve diğer yaş grubunda farklı laboratuar bulguları, klinik belirti ve bulguları gösterebilir. Bu çalışmada soğuk Stafilokokal cilt abseleri, hafif yüksek total serum IgE düzeyi (146 IU/ml, normal: 0-8 IU/ml), yüksek periferal eozinofili (% 15) ve normal serum IgA, IgG, IgG subclas, IgM, C3 ve C4 seviyelerine sahip hiper-immunglobulin E sendromu olan onbeş günlük erkek hasta sunuldu

Kaynakça

  • Shemer A, Weiss G, Confino Y, Trau H. The hyper-IgE syn- drome. Two cases and review of the literature. Int J Dermatol 2001;40:622-628.
  • Schimke LF, Sawalle-Belohradsky J, Roesler J, et al. Diag- nostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol 2010;126:611- 617.
  • Olaiwan A, Chandesris MO, Fraitag S, et al. Cutaneous find- ings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. J Am Acad Dermatol 2011;65:1167-1172
  • Minegishi Y, Karasuyama H. Defects in Jak–STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency. Int Immunol 2009;21:105-112.
  • Woellner C, Gertz EM, Schδffer AA, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 2010;125:424-432.
  • Eberting CL, Davis J, Puck JM, et al. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol 2004;140:1119-1125.
  • Demirel N, Bas AY, Zenciroglu A. Can necrotizing fasciitis be the first symptom of Hyperimmunoglobulin E syndrome? In- dian J Pediatr 2008;75:1090.
  • Yeganeh M, Gambineri E, Abolmaali K, et al. Other well-de- fined immunodeficiencies. Primary immunodeficiency dis- eases: definition, diagnosis and management. In: Rezaei N, Aghamohammadi A, Notarangelo LD, editors. Berlin: Spring- er; 2008;251-290.
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Olgu Sunumu
Yazarlar

İlyas Yolbaş Bu kişi benim

Velat Şen Bu kişi benim

Bilal Sula Bu kişi benim

Lokman Timurağaoğlu Bu kişi benim

Hasan Balık Bu kişi benim

Yayımlanma Tarihi 1 Eylül 2013
Yayımlandığı Sayı Yıl 2013 Cilt: 3 Sayı: 03

Kaynak Göster

APA Yolbaş, İ., Şen, V., Sula, B., Timurağaoğlu, L., vd. (2013). Hyper-immunglobulin E syndrome in a neonate: A case report. Journal of Microbiology and Infectious Diseases, 3(03), 144-146. https://doi.org/10.5799/ahinjs.02.2013.03.0098
AMA Yolbaş İ, Şen V, Sula B, Timurağaoğlu L, Balık H. Hyper-immunglobulin E syndrome in a neonate: A case report. J Microbil Infect Dis. Eylül 2013;3(03):144-146. doi:10.5799/ahinjs.02.2013.03.0098
Chicago Yolbaş, İlyas, Velat Şen, Bilal Sula, Lokman Timurağaoğlu, ve Hasan Balık. “Hyper-Immunglobulin E Syndrome in a Neonate: A Case Report”. Journal of Microbiology and Infectious Diseases 3, sy. 03 (Eylül 2013): 144-46. https://doi.org/10.5799/ahinjs.02.2013.03.0098.
EndNote Yolbaş İ, Şen V, Sula B, Timurağaoğlu L, Balık H (01 Eylül 2013) Hyper-immunglobulin E syndrome in a neonate: A case report. Journal of Microbiology and Infectious Diseases 3 03 144–146.
IEEE İ. Yolbaş, V. Şen, B. Sula, L. Timurağaoğlu, ve H. Balık, “Hyper-immunglobulin E syndrome in a neonate: A case report”, J Microbil Infect Dis, c. 3, sy. 03, ss. 144–146, 2013, doi: 10.5799/ahinjs.02.2013.03.0098.
ISNAD Yolbaş, İlyas vd. “Hyper-Immunglobulin E Syndrome in a Neonate: A Case Report”. Journal of Microbiology and Infectious Diseases 3/03 (Eylül 2013), 144-146. https://doi.org/10.5799/ahinjs.02.2013.03.0098.
JAMA Yolbaş İ, Şen V, Sula B, Timurağaoğlu L, Balık H. Hyper-immunglobulin E syndrome in a neonate: A case report. J Microbil Infect Dis. 2013;3:144–146.
MLA Yolbaş, İlyas vd. “Hyper-Immunglobulin E Syndrome in a Neonate: A Case Report”. Journal of Microbiology and Infectious Diseases, c. 3, sy. 03, 2013, ss. 144-6, doi:10.5799/ahinjs.02.2013.03.0098.
Vancouver Yolbaş İ, Şen V, Sula B, Timurağaoğlu L, Balık H. Hyper-immunglobulin E syndrome in a neonate: A case report. J Microbil Infect Dis. 2013;3(03):144-6.