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Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES) |
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| Authors: | Lee Wen-I Huang Jing-Long Lin Syh-Jae Yeh Kuo-Wei Chen Li-Chen Ou Liang-Shiou Yao Tsung-Chieh Hsieh Meng-Ying Huang Yhu-Chering Yu Hong-Ren Kuo Ho-Chang Yang Kunder D Jaing Tang-Her |
| Affiliation: | a Primary Immunodeficiency Care And Research (PICAR) Institute, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan b Department of Pediatric Allergy, Immunology and Rheumatology, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan c Department of Pediatric Neurology, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan d Graduate Institute of Medical Clinics, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan e Department of Pediatric Infection, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan f Department of Pediatric Hematology and Oncology, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan g Department of Pediatric Allergy, Immunology and Rheumatology, Chang Gung Memorial Hospital and University College of Medicine, Kaohsuing, Taiwan |
| Abstract: | 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 |
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