Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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STAT3유전자 돌연변이 검사로 확진된 고면역글로불린E 증후군 1례

A case of Hyper-IgE syndrome with a mutation of the STAT3 gene

  • 강지만 (성균관대학교 의과대학 삼성서울병원 소아과학교실) ;
  • 서정민 (성균관대학교 의과대학 삼성서울병원 소아과학교실) ;
  • 김지현 (중앙대학교 의과대학 소아과학교실) ;
  • 김희진 (성균관대학교 의과대학 삼성서울병원 진단검사의학교실) ;
  • 김예진 (성균관대학교 의과대학 삼성서울병원 소아과학교실) ;
  • 이훈석 (서울대학교 약학대학) ;
  • 신영기 (서울대학교 약학대학) ;
  • 안강모 (성균관대학교 의과대학 삼성서울병원 소아과학교실) ;
  • 이상일 (성균관대학교 의과대학 삼성서울병원 소아과학교실)
  • Kang, Ji-Man (Department of Pediatric, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Suh, Jung-Min (Department of Pediatric, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Ji-Hyun (Department of Pediatrics, College of Medicine, Chung-Ang University) ;
  • Kim, Hee-Jin (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, the Research Institute of Pharmaceutical Science) ;
  • Kim, Yae-Jean (Department of Pediatric, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Hun-Seok (Seoul National University College of Pharmacy) ;
  • Shin, Young-Kee (Seoul National University College of Pharmacy) ;
  • Ahn, Kang-Mo (Department of Pediatric, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Sang-Il (Department of Pediatric, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 투고 : 2009.11.12
  • 심사 : 2010.02.18
  • 발행 : 2010.04.15
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초록

고 IgE 증후군은 만성 습진성 피부병변, 반복적인 호흡기 감염과 고 IgE 혈증이 특징인 드문 면역결핍질환이다. 환아는 객혈을 주소로 내원한 16세 여아로, 과거력상 신생아시기서부터 시작된 반복적인 피부발진, 잦은 상기도 감염 및 폐렴으로 외부병원에서 지속적인 치료를 받은 바 있었다. 가족력 상에는 특별한 이상이 없었다. 신체검진상 전신의 만성 습진성 피부병변, 크고 뭉특한 코, 아구창 등을 관찰할 수 있었고, 청진상의 양폐야의 부잡음 및 우측 하엽의 호흡음이 감소되었다. 전신 흉부방사선 촬영상 양측 폐야의 기관지확장성 변화를 동반한 우하엽의 흉수 및 경화가 관찰되었으며, 말초혈액검사상 호산구수치($750/{\mu}L$) 및 면역글로불린 E 수치(5,001 U/mL)가 증가되었다. 환아는 임상적으로 고 IgE 증후군이 의심되었으며, 유전자 검사를 통해 확진하였다(Arg382Trp). 최근의 연구에 따르면, 고 IgE 증후군의 주된 원인으로 STAT3 유전자의 이상이 알려져 있으며, 이를 유발하는 여러 돌연변이가 보고되어 있다. 저자들은 STAT3 유전자의 돌연변이 중 잘 알려진 Arg382Trp 돌연변이를 우리나라에서 최초로 유전자 검사를 통해 본 환아에게서 확진하였기에 문헌고찰과 함께 보고하는 바이다. 고 IgE 증후군은 만성 습진성 피부병변, 반복적인 호흡기 감염 등 특징적인 병력이 있는 환자에서 고 IgE 혈증이 동반될 때 임상적으로 의심할 수 있으며, 유전학 검사로 확진이 가능하다.

Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$ $aureus$) and $Pseudomonas$ $aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.

키워드

참고문헌

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