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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Main Authors:	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
Format:	Article
Language:	English
Published:	Hindawi Limited 2012-01-01
Series:	Case Reports in Immunology
Online Access:	http://dx.doi.org/10.1155/2012/196417

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spelling	doaj-dcadd63c68d44320b280be50d962aae32020-11-24T23:15:29ZengHindawi LimitedCase 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
collection	DOAJ
language	English
format	Article
sources	DOAJ
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
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
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
title	A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections
title_short	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_sort	girl with autoimmune cytopenias, nonmalignant lymphadenopathy, and recurrent infections
publisher	Hindawi Limited
series	Case Reports in Immunology
issn	2090-6609 2090-6617
publishDate	2012-01-01
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.
url	http://dx.doi.org/10.1155/2012/196417
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A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections

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