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 c...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2012/196417 |
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| author | Marjolein A. C. Mattheij Ellen J. H. Schatorjé Eugenie F. A. Gemen Lisette van de Corput Peet T. G. A. Nooijen Mirjam van der Burg Esther de Vries |
| author_facet | Marjolein A. C. Mattheij Ellen J. H. Schatorjé Eugenie F. A. Gemen Lisette van de Corput Peet T. G. A. Nooijen Mirjam van der Burg Esther de Vries |
| author_sort | Marjolein A. C. Mattheij |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-dcadd63c68d44320b280be50d962aae3 |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-dcadd63c68d44320b280be50d962aae32025-02-03T01:24:17ZengWileyCase Reports in Immunology2090-66092090-66172012-01-01201210.1155/2012/196417196417A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent InfectionsMarjolein A. C. Mattheij0Ellen J. H. Schatorjé1Eugenie F. A. Gemen2Lisette van de Corput3Peet T. G. A. Nooijen4Mirjam van der Burg5Esther de Vries6Department of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The NetherlandsDepartment of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The NetherlandsLaboratory for Clinical Chemistry and Hematology, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The NetherlandsDepartment of Medical Immunology, University Medical Center Utrecht, P.O. Box 85500, Utrecht, The NetherlandsDepartment of Pathology, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The NetherlandsDepartment of Immunology, Erasmus Medical Center, P.O. Box 2040, 3000 CA Rotterdam, The NetherlandsDepartment of Pediatrics, Jeroen Bosch Hospital, P.O. Box 90153, 5200 ME 's-Hertogenbosch, The NetherlandsWe 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.http://dx.doi.org/10.1155/2012/196417 |
| spellingShingle | Marjolein A. C. Mattheij Ellen J. H. Schatorjé Eugenie F. A. Gemen Lisette van de Corput Peet T. G. A. Nooijen Mirjam van der Burg Esther de Vries A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections Case Reports in Immunology |
| title | A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections |
| title_full | A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections |
| title_fullStr | A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections |
| title_full_unstemmed | A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections |
| title_short | A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections |
| title_sort | girl with autoimmune cytopenias nonmalignant lymphadenopathy and recurrent infections |
| url | http://dx.doi.org/10.1155/2012/196417 |
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