X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report
Articles > Article ยท 2013
Authors: Can Ozturk, Sumer Sutcuoglu, Berna Atabay, Afig Berdeli
Case Reports in Medicine, International, Scopus, 2013, vol 2013, pp 1-4
DOI: 10.1155/2013/742795
Summary
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.