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

Year 2013, , 144 - 146, 01.09.2013

İlyas Yolbaş Velat Şen Bilal Sula Lokman Timurağaoğlu Hasan Balık

https://doi.org/10.5799/ahinjs.02.2013.03.0098

Abstract

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.

Keywords

Hyper-immunoglobulin E syndrome, recurrent infections, neonate

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

Abstract

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

Keywords

Hiper-immunglobulin E sendromu, Job sendromu, yenidoğan

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