A case of Hyper-IgE syndrome with a mutation of the STAT3 gene.
10.3345/kjp.2010.53.4.592
- Author:
Ji man KANG
1
;
Jungmin SUH
;
Jihyun KIM
;
Hee Jin KIM
;
Yae jean KIM
;
Hun Seok LEE
;
Young Kee SHIN
;
Kangmo AHN
;
Sang Il LEE
Author Information
1. Department of Pediatric, Samsung Medical Center, Sungkyunkwan University School of Medicine, Korea.
- Publication Type:Case Report
- Keywords:
Hyper IgE syndrome (HIES);
Immunodeficiency;
STAT3
- MeSH:
Bronchiectasis;
Candidiasis, Oral;
DNA;
Eczema;
Eosinophils;
Exanthema;
Hemoptysis;
Humans;
Immunoglobulin E;
Job's Syndrome;
Methicillin-Resistant Staphylococcus aureus;
Mutation, Missense;
National Institutes of Health (U.S.);
Nose;
Physical Examination;
Pneumonia;
Pseudomonas aeruginosa;
Respiratory Tract Infections;
Skin;
Staphylococcus;
STAT3 Transcription Factor
- From:Korean Journal of Pediatrics
2010;53(4):592-597
- CountryRepublic of Korea
- Language:English
-
Abstract:
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/microliter) 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.
