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  • 1
    Language: English
    In: Journal of Clinical Immunology, 2011, Vol.31(2), pp.272-280
    Description: Byline: 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) Keywords: Hyper IgE recurrent infection syndrome (HIES); STAT3, TYK2, DOCK8, primary immunodeficiency diseases (PIDs); Taiwan; Chinese; molecular analysis Abstract: Background 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. Results 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. Conclusions 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. Author Affiliation: (1) Primary Immunodeficiency Care And Research (PICAR) Institute, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan (2) Department of Pediatric Allergy, Immunology and Rheumatology, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan (3) Department of Pediatric Neurology, Chang Gung Memory Hospital and University College of Medicine, Taoyuan, Taiwan (4) Graduate Institute of Medical Clinics, Chang Gung Memory Hospital and University College of Medicine, Taoyuan, Taiwan (5) Department of Pediatric Infection, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan (6) Department of Pediatric Hematology and Oncology, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan (7) Department of Pediatric Allergy, Immunology and Rheumatology, Chang Gung Memorial Hospital and University College of Medicine, Kaohsuing, Taiwan (8) Department of Dermatology, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan (9) Primary Immunodeficiency Care And Research (PICAR) Institute, Chang Gung Memory Hospital and University College of Medicine, 5 Fu-Shing St. (Pediatric Office 12 L), Kwei-Shan, Taoyuan, Taiwan Article History: Registration Date: 19/10/2010 Received Date: 30/08/2010 Accepted Date: 19/10/2010 Online Date: 01/12/2010
    Keywords: Hyper IgE recurrent infection syndrome (HIES) ; STAT3, TYK2, DOCK8, primary immunodeficiency diseases (PIDs) ; Taiwan ; Chinese ; molecular analysis
    ISSN: 0271-9142
    E-ISSN: 1573-2592
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