A girl with autoimmune cytopenias, nonmalignant lymphadenopathy, and recurrent infections.
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.
Department of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands ; University Medical Centre Antwerp, Antwerp, Belgium.
Marjolein A C
MA
Mattheij
Department of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands ; Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.
Ellen J H
EJ
Schatorjé
Laboratory for Clinical Chemistry and Hematology, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands.
Eugenie F A
EF
Gemen
Department of Medical Immunology, University Medical Center Utrecht, P.O. Box 85500, Utrecht, The Netherlands.
Lisette
L
van de Corput
Department of Pathology, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands.
Peet T G A
PT
Nooijen
Department of Immunology, Erasmus Medical Center, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.
Mirjam
M
van der Burg
Department of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The Netherlands.
Esther
E
de Vries