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

Journal of Microbiology and Infectious 144 Yolbaş Diseases İ, et al./Hyper-immunglobulin E syndrome 2013; 3 (3): 144-146 JMID doi: 10.5799/ahinjs.02.2013.03.0098 CASE REPORT Hyper-immunoglobulin E syndrome in a neonate: A case report İlyas Yolbaş1, Velat Şen1, Bilal Sula2, Lokman Timurağaoğlu1, Hasan Balık3 Department of Pediatrics, Dicle University, Medical School, Diyarbakir, Turkey Department of Dermatology, Dicle University, Medical School, Diyarbakir, Turkey 3 Diyarbakir Children’s Hospital, Diyarbakir, Turkey 1 2 ABSTRACT 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 case of Hyperimmunoglobulin E syndrome in neonate with review of the literature. J Microbiol Infect Dis 2013; 3(3): 144-146 Key words: Hyper-immunoglobulin E syndrome, recurrent infections, neonate Bir yenidoğanda Hiperimmunglobulin E sendromu: Olgu sunumu ÖZET 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: Hiper-immunglobulin E sendromu, Job sendromu, yenidoğan INTRODUCTION CASE REPORT Hyper-immunoglobulin (Ig) E syndrome (HIES or Job Syndrome) is a rare primary immunodeficiency generally characterized by recurrent infections such as staphylococcal cold skin abscesses and pneumonia, eczema, scoliosis, joint hyperextensibility, pathologic fractures, a typical facial appearance, craniosynostosis, very high IgE, severe eosinophilia, and variable impaired T cell functions. The mechanisms responsible for hyperproduction of IgE and eosinophils in patients with HIES are presently unknown. Generally the onset of HIES occurs in children and elderly individuals.1,2 HIES may have variable presentation, and laboratory values in different age groups.3,4 A fifteen-days-old male neonate born at 40 weeks of gestation by normal spontaneous vaginal birth to a 24 years-old mother without history of significant disease such as eczema or HIES in the family. The antenatal ultrasonography was normal. The patient was admitted to Dicle University Hospital at fifteenth day of his life, because of cold abscess that appeared 5 days before admission. On physical examination there was a 2x3 cm swelling compatible with cold abscesses in the anterior right knee area, right supraclavicular area, lateral right chest area and anterior left ankle area. He also had a characteristic facial appearance such a broad nasal bridge, cheilitis, thickened skin, and deep-set eyes with a prominent chin and forehead (Figure 1-3). There were no eczematous rash, scoliosis, fractures history, joint hyperextensibility and craniosynostosis on his physical examination and history. We present a 15-days old newborn with HIES whose only have staphylococcal cold skin abscesses eosinophilia and high immunoglobulin E levels. Correspondence: İlyas Yolbaş, Dicle University, Faculty of Medicine, Department of Pediatrics, Diyarbakır, Turkey Email: Received: 22.05.2013, Accepted: 11.07.2013 and Infectious Diseases 2013, All rights Vol reserved J Microbiol Infect DisCopyright © Journal of Microbiology www.jmidonline.org 3, No 3, September 2013 Yolbaş İ, et al. Hyper-immunglobulin E syndrome The patient had slightly higher total serum IgE level (146 IU/mL, normal range: 0-8 IU/mL), high peripheral eosinophilia (15%) and normal serum IgA, IgG, IgG subclasses, IgM, C3 and C4 levels. The patient’s other biochemical parameters were normal. The neonate underwent incision with pus aspirated which later grew Staphylococcus aureus. The skin biopsy showed eosinophil infiltration. Staphylococcal cold skin abscesses were treated with Ampicillin-sulbactam after drainage. HIES was diagnosed by clinically and laboratory tests, because there are no genetic or other confirmatory tests available in Turkey. The patient’s computed tomography of the lungs was normal. The patient’s Dual-energy X-ray absorptiometry test was found normal. The patient was discharged after two week from the hospital without any complications. 145 Figure 3. Staphylococcal cold skin abscesses on anterior right knee area DISCUSSION Figure 1. Characteristic facial appearance such a broad nasal bridge, cheilitis, thickened skin, and deep-set eyes with a prominent chin and forehead, and Staphylococcal cold skin abscesses on right supraclavicular area Figure 2. Staphylococcal cold skin abscesses on lateral right chest area J Microbiol Infect Dis HIES is a multi-system disorder with a wide range of clinical phenotypes and signs, including skeletal, connective tissue, and vascular abnormalities.3 Most of patients with HIES suffer from recurrent staphylococcal infections of skin and lungs.4 Generally recurrent pyogenic pneumonias start in early childhood, and the most common infecting organisms are Staphylococcal aureus, Haemophilus influenzae and Streptococcus pneumoniae, Also mucocutaneous candidiasis is common in HIES.4 Musculoskeletal abnormalities of HIES are scoliosis, osteopenia, minimal trauma fractures, hyperextensibility and degenerative joint disease.3,5 The patients with HIES may have problem with development of their teeth.6 Our case had multiple cold skin abscesses in the various regions of body but had no other stigmata of HIES at this age. Characteristic facial appearance of HIES include broad nasal bridge, cheilitis, thickened skin, and deep-set eyes with a prominent chin and forehead3. Our case had the similar characteristic facial appearance such as broad nasal bridge, cheilitis, thickened skin, and deep-set eyes with a prominent chin and forehead. The two most consistent laboratory abnormalities in HIES are eosinophilia and elevated serum IgE. Over time, the serum IgE may decline in adults or may increase in newborn.3 Demirci at al7 found that IgE level of a two-month-old patient with HIES was 75.3 IU/ml (Range: 15-32 IU/ml), But in the same patients’ they found IgE level 13,000 IU/ml after eight months. The patients with HIES have normal serum IgM, IgG, and IgA levels.3 Our case have had slightly higher to (...truncated)