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.
Anahtar Kelimeler
Hyper-immunoglobulin E syndrome recurrent infections neonate
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.
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
Anahtar Kelimeler
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.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2013 |
| Yayımlandığı Sayı | Yıl 2013 Cilt: 3 Sayı: 03 |