title: Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis.
abstract: OBJECTIVE
  X-linked lymphoproliferative syndrome (XLP) type 1 is a rare immunodeficiency, which is caused by mutations in SH2D1A gene. The prognosis of XLP is very poor, and hematopoietic stem cell transplantation (HSCT) is the only curative therapy. We characterized the clinical features and outcome of Japanese patients with XLP-1.
  
  
  METHODS
  We used a combination of flow cytometric analysis and genetic analysis to identify XLP-1 and reviewed the patient characteristics and survival with HSCT.
  
  
  RESULTS
  We identified 33 patients from 21 families with XLP-1 in Japan. Twenty-one of the patients (65%) who did not undergo a transplant died of the disease and complications. Twelve patients underwent HSCT, and 11 of these (92%) survived.
  
  
  CONCLUSIONS
  We described the clinical characteristics and outcomes of Japanese patients with XLP-1, and HSCT was the only curative therapy for XLP-1. The rapid and accurate diagnosis of XLP with the combination of flow cytometric assay and genetic analysis is important.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan. kanegane@med.u-toyama.ac.jp
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Xi
authors.initials: X
authors.lastname: Yang
authors.forename: Meina
authors.initials: M
authors.lastname: Zhao
authors.forename: Kazumi
authors.initials: K
authors.lastname: Yamato
authors.forename: Masami
authors.initials: M
authors.lastname: Inoue
authors.forename: Kazuko
authors.initials: K
authors.lastname: Hamamoto
authors.forename: Chie
authors.initials: C
authors.lastname: Kobayashi
authors.forename: Ako
authors.initials: A
authors.lastname: Hosono
authors.forename: Yoshikiyo
authors.initials: Y
authors.lastname: Ito
authors.forename: Yozo
authors.initials: Y
authors.lastname: Nakazawa
authors.forename: Kiminori
authors.initials: K
authors.lastname: Terui
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kogawa
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.forename: Ryo
authors.initials: R
authors.lastname: Sumazaki
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D000293:Adolescent; D000328:Adult; D002469:Cell Separation; D002648:Child; D002675:Child, Preschool; D005260:Female; D005434:Flow Cytometry; D005820:Genetic Testing; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007564:Japan; D008232:Lymphoproliferative Disorders / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000628:therapy; D008297:Male; D008875:Middle Aged; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D016019:Survival Analysis; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein