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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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  • 2
    Language: English
    In: Chang Gung medical journal, 2011, Vol.34(4), pp.367-74
    Description: This in vitro study investigated the angiogenesis and osteogenesis effects of shockwaves on bone marrow stromal cells (BMSCs) from hips with osteonecrosis. BMSCs were harvested from the bone marrow cavity of the proximal femur in six patients with osteonecrosis of the femoral head. The specimens were divided into four groups, the control, shockwave, shockwave plus nω-nitro- L-arginine methyl ester (L-NAME) and a nitric oxide (NO) donor (NOC18) groups. The control group received no shockwaves and was used as the baseline. The shockwave group received 250 shockwave impulses at 14 Kv (equivalent to 0.18 mJ/mm2 energy flux density). The shockwave plus LNAME group was pre-treated with L-NAME before receiving shockwaves. The NOC18 group received NOC18 after cell culture for 48 hours. The evaluations included cell proliferation (MTT) assay, alkaline phosphatase, real time reverse transcriptase-polymerase chain reaction analysis of vessel endothelial growth factor (VEGF), bone morphogenic protein (BMP)-2, RUNX2 and osteocalcin mRNA expression and von Kossa stain for mineralized nodules. The shockwave group showed significant increases in MTT, VEGF, alkaline phosphatase, BMP2, RUNX2 and osteocalcin mRNA expression and more mature mineralized nodules compared with the control. Pre-treatment with L-NAME significantly reduced the angiogenic and osteogenic effects of extracorporeal shockwave therapy (ESWT) and the results were comparable with the control. Administration of NOC18 significantly enhanced the angiogenesis and osteogenesis effects compared with the control and the results were comparable with the shockwave group. ESWT significantly enhanced the angiogenic and osteogenic effects of BMSCs mediated through the NO pathway in hips with osteonecrosis. These innovative findings, at least in part, explain some of the mechanism of shockwaves in osteonecrosis of the hip.
    Keywords: Osteogenesis ; Bone Marrow Cells -- Metabolism ; Femur Head Necrosis -- Therapy ; High-Energy Shock Waves -- Therapeutic Use
    E-ISSN: 2309-835X
    Source: MEDLINE/PubMed (U.S. National Library of Medicine)
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  • 3
    Language: English
    In: Immunobiology, August 2011, Vol.216(8), pp.909-917
    Description: Hyper-immunoglobulin E recurrent infection syndromes (HIES) have distinct features, with identified associated mutations of STAT3, TYK2, and DOCK8. Among 197 Taiwanese patients with primary immunodeficiency on a referral-base of over 23 million inhabitants, STAT3 (R382W and Q469R) and DOCK8 mutations (exon 1–9 deletion) were identified in two patients each from six AD-HIES and five AR-HIES patients, respectively. Aside from decreased Th17 and memory B cells, characteristic facies and pneumatocele were not mutually exclusive regardless of STAT3 and DOCK8 mutations. One with novel DOCK8 deletion had notable cytomegalovirus retinitis, cerebral vasculitis, lead deposition, and amenorrhea. In adolescence, three AD-HIES patients without STAT3 mutation died of myocardial infarction, staphylococcus sepsis, and proteus sepsis while receiving chemotherapy for lymphoma. Close follow-up of the HIES phenotype rather than identifying genetic mutations should be the cornerstone of intervention at this juncture because of relatively lower percentage of identifying mutations in Taiwanese HIES (4/11; 36.5%).
    Keywords: Hyper Ige Recurrent Infection Syndromes (Hies) ; Stat3 ; Tyk2 ; Dock8 ; Primary Immunodeficiency Diseases (Pids) ; Taiwan ; Chinese ; Biology
    ISSN: 0171-2985
    E-ISSN: 1878-3279
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  • 4
    Language: English
    In: Nitric Oxide, 2009, Vol.20(4), pp.298-303
    Description: This study investigated the effects of extracorporeal shockwave treatment (ESWT) on bone healing and the systemic concentrations of nitric oxide (NO), TGF-β1, VEGF and BMP-2 in long bone non-unions. Forty-two patients with 42 established non-unions of the femur and tibia were enrolled in this study. Each long bone non-union was treated with 6000 impulses of shockwave at 28 kV in a single session. Ten milliliters of peripheral blood were obtained for measurements of serum NO level and osteogenic growth factors including TGF-β1, VEGF and BMP-2; serum levels of calcium, alkaline phosphatase, calcitonin and parathyroid hormone before treatment and at 1 day, 1, 3 and 6 months after treatment. The evaluations for bone healing included clinical assessments and serial radiographic examinations. At 6 months, bony union was radiographically confirmed in 78.6%, and persistent non-union in 21.4%. Patients with bony union showed significantly higher serum NO level, TGF-β1, VEGF and BMP-2 at 1 month after treatment as compared to patients with persistent non-union. Shockwave-promoted bone healing was associated with significant increases in serum NO level and osteogenic growth factors. The elevations of systemic concentration of NO level and the osteogenic factors may reflect a local stimulation of shockwave in bone healing in long bone non-unions.
    Keywords: Shockwave ; Non-Union ; Bone Healing ; Nitric Oxide (No) ; Tgf-Β1 ; Vegf ; Bmp-2 ; Biology ; Chemistry ; Anatomy & Physiology
    ISSN: 1089-8603
    E-ISSN: 1089-8611
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  • 5
    Language: English
    In: Immunobiology, 2011, Vol.216(12), pp.1286-1294
    Description: Primary immunodeficiency diseases (PIDs) are a group of rare diseases with wide geographic and ethnic variations in incidence, prevalence, and distribution patterns. The aim of this study was to examine the distribution pattern and clinical spectrum of PIDs in Taiwan at a national referral institute. From 1985 to 2010, 215 patients from 183 families were diagnosed and grouped according to the updated classification of PIDs. Eighty-one (37.7%) patients had “other well-defined immunodeficiency syndromes”, followed by “predominantly antibody deficiencies” (54 patients; 25.1%), “T- and B-cell immunodeficiencies” (34; 15.8%), “congenital defects of phagocytes” (25; 20.2%), “complement deficiencies” (15; 7.0%), and “disease in immune dysregulation” (5; 2.3%). The last category included two patients with Chediak–Higashi syndrome, and one each with familial hemophagocytosis, IPEX, and hypogammaglobulinemia and albinism. One female had cold-induced auto-inflammatory disease. There were no cases of “defects in innate immunity”. and were the two most identified microorganisms in septicemia (42.7%; 44/103 episodes). Stem cell transplantation was successful in 13 of 22 patients, while 34 patients (15.8%) died. Molecular defects were identified in 109 individuals (from 90 families). There were relatively fewer cases of “predominantly antibody deficiencies” due to there being only a few patients with adult-onset PIDs, implying certainty bias rather than ethnic variation. Awareness of under-diagnosis among physicians rather than pediatricians is vital for timely diagnosis and consequently adequate treatment.
    Keywords: Antibody Deficiencies ; Immunodeficiency ; Phagocyte Defects ; Complement Deficiencies ; Recurrent Infections ; Molecular Analysis ; Taiwan ; Chinese ; Biology
    ISSN: 0171-2985
    E-ISSN: 1878-3279
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