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Scandinavian Journal of Rheumatology Volume 44, 2015 - Issue 2
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Letters

X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis

T PatirogluDepartments of Paediatric Immunology, Erciyes University School of Medicine, Kayseri, Turkey
,
HH AkarDepartments of Paediatric Immunology, Erciyes University School of Medicine, Kayseri, TurkeyCorrespondence[email protected]
,
Z GunduzDepartments of Paediatric Rheumatology, Erciyes University School of Medicine, Kayseri, Turkey
,
S SiskoExperimental Medicine Research Institute, Istanbul University School of Medicine, Istanbul, Turkey
&
YY NgDepartment of Genetics and Bioengineering, Istanbul Bilgi University, Istanbul, Turkey
Pages 168-170 | Accepted 03 Dec 2014, Published online: 10 Mar 2015

References

  • Vetrie D, Vořechovský I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinemia is a member of the Src family of protein-tyrosine kinases. 1993. J Immunol 2012;188:2948–55.
  • Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, et al. Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study. Mol Immunol 2009;46:2140–6.
  • Vancsa A, Toth B, Szekanecz Z. BTK gene mutation in two non-identical twins with X-linked agammaglobulinemia associated with polyarticular juvenile idiopathic arthritis. Isr Med Assoc J 2011;13:579–80.
  • Swierkot J, Lewandowicz-Uszyńska A. The role of intravenous immunoglobulin in the treatment of rheumatic diseases in adults. Pol Merkur Lekarski 2011;30:435–40.
  • Machado P, Santos A, Faria E, Silva J, Malcata A, Chieira C. Arthritis and X-linked agammaglobulinemia. Acta Reumatol Port 2008;33:464–7.
  • Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006;85:193–202.
  • Zhu Z, Kang Y, Lin Z, Huang Y, Lv H, Li Y. X-linked agammaglobulinemia combined with juvenile idiopathic arthritis and invasive Klebsiella pneumoniae polyarticular septic arthritis. Clin Rheumatol. Published online: 25 February 2014. doi: 10.1007/s10067-014-2537-y.
  • Sordet C, Cantagrel A, Schaeverbeke T, Sibilia J. Bone and joint disease associated with primary immune deficiencies. Joint Bone Spine 2005;72:503–14.

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