title: The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome.
abstract: Autosomal dominant hyper-IgE syndrome (AD-HIES) is included among primary immunodeficiencies, and results from heterozygous mutations in the signal transduction and activator of transcription 3 (STAT3) gene. AD-HIES leads to impaired Th17 cell differentiation and IL-17 production, and is associated with increased susceptibility to bacteria and fungi. It was reported that several patients with AD-HIES were treated with hematopoietic stem cell transplantation (HSCT). The efficacy of HSCT in treating AD-HIES is variable. This study aims to evaluate the long-term clinical and immunological efficacy of HSCT for AD-HIES.
  
  
  
  We have followed for more than 8 years two patients with AD-HIES who were treated with HSCT. Their ability of IL-17 production was evaluated by flow cytometry.
  
  
  
  Both patients indicated the normal ability of IL-17 production and their serum IgE levels decreased after HSCT. On the other hand, they suffered from pulmonary complications of AD-HIES such as pneumatoceles and bronchiectasis even after HSCT; however, the frequency of infections was decreased.
  
  
  
  Although the dysfunction of STAT3 in non-hematological tissues such as the lungs could not be corrected by HSCT, AD-HIES patients with risk factors for pulmonary complications may benefit from immunological correction by HSCT before severe pulmonary complications occur. Future studies should investigate risk factors for pulmonary complications in AD-HIES patients.
authors.affiliation: Department of Pediatrics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, Japan. m.yanagimachi@gmail.com.|Department of Pediatrics, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, Japan. m.yanagimachi@gmail.com.
authors.forename: Masakatsu
authors.initials: M
authors.lastname: Yanagimachi
authors.affiliation: Department of Pediatrics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Ohya
authors.affiliation: Department of Pediatrics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Yokosuka
authors.affiliation: Department of Pediatrics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Kajiwara
authors.affiliation: Department of Pediatrics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, Japan.
authors.forename: Fumiko
authors.initials: F
authors.lastname: Tanaka
authors.affiliation: Department of Pediatrics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Goto
authors.affiliation: Department of Pediatrics, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, Japan.
authors.forename: Takehiro
authors.initials: T
authors.lastname: Takashima
authors.affiliation: Department of Pediatrics, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.affiliation: Department of Pediatrics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, Japan.
authors.forename: Shumpei
authors.initials: S
authors.lastname: Yokota
mesh_terms: D000293:Adolescent; D000328:Adult; D001987:Bronchiectasis / Q000209:etiology; D002648:Child; D005260:Female; D005434:Flow Cytometry; D005500:Follow-Up Studies; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D056747:Immunomodulation; D020381:Interleukin-17 / Q000378:metabolism*; D007589:Job Syndrome / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D008168:Lung / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D011183:Postoperative Complications; D050796:STAT3 Transcription Factor / Q000235:genetics; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D020381:Interleukin-17; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; D007073:Immunoglobulin E
keywords: Autosomal dominant Hyper-IgE syndrome; IL-17; STAT3; bronchiectasis; hematopoietic stem cell transplantation; pneumatoceles