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

To cite this article: Kanegane H, Yang Xi, 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. 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 Immunology 2012: 23: 488–493. 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.