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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Autores principales: Mattheij, Marjolein A. C., Schatorjé, Ellen J. H., Gemen, Eugenie F. A., van de Corput, Lisette, Nooijen, Peet T. G. A., van der Burg, Mirjam, de Vries, Esther
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207596/
https://www.ncbi.nlm.nih.gov/pubmed/25379303
http://dx.doi.org/10.1155/2012/196417
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author Mattheij, Marjolein A. C.
Schatorjé, Ellen J. H.
Gemen, Eugenie F. A.
van de Corput, Lisette
Nooijen, Peet T. G. A.
van der Burg, Mirjam
de Vries, Esther
author_facet Mattheij, Marjolein A. C.
Schatorjé, Ellen J. H.
Gemen, Eugenie F. A.
van de Corput, Lisette
Nooijen, Peet T. G. A.
van der Burg, Mirjam
de Vries, Esther
author_sort Mattheij, Marjolein A. C.
collection PubMed
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.
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spelling pubmed-42075962014-11-06 A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections Mattheij, Marjolein A. C. Schatorjé, Ellen J. H. Gemen, Eugenie F. A. van de Corput, Lisette Nooijen, Peet T. G. A. van der Burg, Mirjam de Vries, Esther Case Reports Immunol Case Report 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. Hindawi Publishing Corporation 2012 2012-11-21 /pmc/articles/PMC4207596/ /pubmed/25379303 http://dx.doi.org/10.1155/2012/196417 Text en Copyright © 2012 Marjolein A. C. Mattheij et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
Mattheij, Marjolein A. C.
Schatorjé, Ellen J. H.
Gemen, Eugenie F. A.
van de Corput, Lisette
Nooijen, Peet T. G. A.
van der Burg, Mirjam
de Vries, Esther
A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207596/
https://www.ncbi.nlm.nih.gov/pubmed/25379303
http://dx.doi.org/10.1155/2012/196417
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