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

Hirokazu Kanegane, Xi Yang, Meina Zhao, Kazumi Yamato, Masami Inoue, Kazuko Hamamoto, Chie Kobayashi, Ako Hosono, Yoshikiyo Ito, Yozo Nakazawa, Kiminori Terui, Kazuhiro Kogawa, Eiichi Ishii, Ryo Sumazaki, Toshio Miyawaki

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18 Citations (Scopus)

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. Conclusion: 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.

Original languageEnglish
Pages (from-to)488-493
Number of pages6
JournalPediatric Allergy and Immunology
Volume23
Issue number5
DOIs
Publication statusPublished - Aug 2012

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Immunology and Allergy
  • Immunology

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    Kanegane, H., Yang, X., Zhao, M., Yamato, K., Inoue, M., Hamamoto, K., Kobayashi, C., Hosono, A., Ito, Y., Nakazawa, Y., Terui, K., Kogawa, K., Ishii, E., Sumazaki, R., & Miyawaki, T. (2012). 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. Pediatric Allergy and Immunology, 23(5), 488-493. https://doi.org/10.1111/j.1399-3038.2012.01282.x