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Case Reports in Medicine
Volume 2013 (2013), Article ID 742795, 4 pages
Case Report

X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report

1Department of Pediatrics, Izmir Tepecik Education and Research Hospital, Ministry of Health, 35100 Izmir, Turkey
2Department of Pediatrics, Molecular Medicine Laboratory, Medical School, Ege University, 35040 Izmir, Turkey

Received 13 November 2012; Accepted 21 December 2012

Academic Editor: Gerald S. Supinski

Copyright © 2013 Can Ozturk et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Introduction. Coincidence of X-linked agammaglobulinemia (XLA) and secondary hemophagocytic syndrome (sHS) is atypical. Both diseases are rare and pathogenesis of the latter one is not clearly known. Case Presentation. A 5-year-old boy was diagnosed both with XLA and sHS. However, in his history, he did not have severe and recurrent infections. Bruton tyrosine kinase (BTK) gene mutation was present (c.1581_1584delTTTG). To the best of the authors’ knowledge, coincidence of XLA and sHS had not been reported in the literature before. Conclusion. Patients with XLA are extremely vulnerable to recurrent bacterial infections. The diagnosis of XLA with sHS at any time of life is both an interesting and challenging situation without history of recurrent bacterial infections.