| Autor: |
Mattheij MA; Department of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands ; University Medical Centre Antwerp, Antwerp, Belgium., Schatorjé EJ; Department of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands ; Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands., Gemen EF; Laboratory for Clinical Chemistry and Hematology, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands., van de Corput L; Department of Medical Immunology, University Medical Center Utrecht, P.O. Box 85500, Utrecht, The Netherlands., Nooijen PT; Department of Pathology, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands., van der Burg M; Department of Immunology, Erasmus Medical Center, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands., de Vries E; Department of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands. |
| Abstrakt: |
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. |
