Journal of Clinical Immunology

, Volume 31, Issue 2, pp 272–280

Clinical Aspects and Genetic Analysis of Taiwanese Patients with the Phenotype of Hyper-Immunoglobulin E Recurrent Infection Syndromes (HIES)

  • Wen-I Lee
  • Jing-Long Huang
  • Shy-Jae Lin
  • Kuo-Wei Yeh
  • Li-Chen Chen
  • Meng-Ying Hsieh
  • Yhu-Chering Huang
  • Ho-Chang Kuo
  • Kunder D. Yang
  • Hong-Ren Yu
  • Tang-Her Jaing
  • Chih-Hsun Yang



Hyper-immunoglobulin E recurrent infection syndromes (HIES) has characteristic features and identified mutations. This study investigated clinical features and causal candidate mutations in Taiwanese patients with the HIES phenotype on referral base over 23 million inhabitants.

Patients and Methods

Clinical manifestations of the HIES phenotype, severity scoring, immunological functions and candidate genes of signal transducer and activator of transcription 3 (STAT3), tyrosine kinase 2 (TYKZ), and dedicator of cytokineses 8 (DOCK8) were analyzed.


Between 1985 and 2009, six sporadic and two siblings met HIES criteria (onset age: 2–54 months; severity score: 31–65) out of 187 patients with primary immunodeficiencies. Five patients with the autosomal dominant (AD)-HIES phenotype presented as pneumatocoele, bronchiectasis, retained primary teeth, minor trauma fracture, scoliosis, coronary aneurysm, and lymphoma. Three with the autosomal recessive (AR)-HIES phenotype and impaired lymphocyte proliferation function had herpes simplex virus infection, molluscum contagiosum, and cerebral vasculitis. Notably in one patient with the AR-HIES phenotype, unintentional lead component in traditional application herbs for accelerating wound healing deposited in basal ganglia and aggravated involuntary movement relative to cerebral vacculitis. Those with mildly elevated memory T cells and decreased memory B cells trended to develop arteritis. Of five AD-HIES patients, three were mortalities from acute myocardial infarction, Proteus mirabilis, and Staphylococcus aureus sepsis. Only one had de novo novel STAT3 (Gln 469 Arg) mutation with “relative” lower HIES STAT3 score.


Known genetic defects responsible for the HIES phenotype are not so common in Taiwan. This may infer genetic variations in different ethnicities although selection bias and under-diagnosis for HIES with known genetic defects could be contribution factors.


Hyper IgE recurrent infection syndrome (HIES) STAT3, TYK2, DOCK8, primary immunodeficiency diseases (PIDs) Taiwan Chinese molecular analysis 


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Wen-I Lee
    • 1
    • 2
    • 9
  • Jing-Long Huang
    • 1
    • 2
  • Shy-Jae Lin
    • 2
  • Kuo-Wei Yeh
    • 2
  • Li-Chen Chen
    • 2
  • Meng-Ying Hsieh
    • 3
    • 4
  • Yhu-Chering Huang
    • 5
  • Ho-Chang Kuo
    • 7
  • Kunder D. Yang
    • 7
  • Hong-Ren Yu
    • 7
  • Tang-Her Jaing
    • 1
    • 6
  • Chih-Hsun Yang
    • 8
    • 9
  1. 1.Primary Immunodeficiency Care And Research (PICAR) InstituteChang Gung Memorial Hospital and University College of MedicineTaoyuanTaiwan
  2. 2.Department of Pediatric Allergy, Immunology and RheumatologyChang Gung Memorial Hospital and University College of MedicineTaoyuanTaiwan
  3. 3.Department of Pediatric NeurologyChang Gung Memory Hospital and University College of MedicineTaoyuanTaiwan
  4. 4.Graduate Institute of Medical ClinicsChang Gung Memory Hospital and University College of MedicineTaoyuanTaiwan
  5. 5.Department of Pediatric InfectionChang Gung Memorial Hospital and University College of MedicineTaoyuanTaiwan
  6. 6.Department of Pediatric Hematology and OncologyChang Gung Memorial Hospital and University College of MedicineTaoyuanTaiwan
  7. 7.Department of Pediatric Allergy, Immunology and RheumatologyChang Gung Memorial Hospital and University College of MedicineKaohsuingTaiwan
  8. 8.Department of DermatologyChang Gung Memorial Hospital and University College of MedicineTaoyuanTaiwan
  9. 9.Primary Immunodeficiency Care And Research (PICAR) InstituteChang Gung Memory Hospital and University College of MedicineTaoyuanTaiwan

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