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Case Reports in Immunology
Volume 2012, Article ID 196417, 6 pages
http://dx.doi.org/10.1155/2012/196417
Case Report

A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections

1Department of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands
2University Medical Centre Antwerp, Antwerp, Belgium
3Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
4Laboratory for Clinical Chemistry and Hematology, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands
5Department of Medical Immunology, University Medical Center Utrecht, P.O. Box 85500, Utrecht, The Netherlands
6Department of Pathology, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands
7Department of Immunology, Erasmus Medical Center, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands

Received 28 August 2012; Accepted 9 October 2012

Academic Editors: V. Lougaris and A. Plebani

Copyright © 2012 Marjolein A. C. Mattheij 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.

Abstract

We describe a girl, now 9 years of age, with chronic idiopathic thrombocytopenic purpura, persistent nonmalignant lymphadenopathy, splenomegaly, recurrent infections, and autoimmune hemolytic anemia. Her symptoms partly fit the definitions of both autoimmune lymphoproliferative syndrome (ALPS) and common variable immunodeficiency disorders (CVIDs). Genetic analysis showed no abnormalities in the ALPS-genes FAS, FASLG, and CASP10. The CVID-associated TACI gene showed a homozygous polymorphism (Pro251Leu), which is found also in healthy controls.