Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation
Copyright © 2015 Elsevier Inc. All rights reserved.
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 159(2015), 1 vom: 05. Juli, Seite 84-92 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , , , , , , , , , |
| Format: | Article en ligne |
| Langue: | English |
| Publié: |
2015
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| Accès à la collection: | Clinical immunology (Orlando, Fla.) |
| Sujets: | Journal Article Research Support, Non-U.S. Gov't Autoimmune lymphoproliferative disorder Immunodeficiency Adaptor Proteins, Signal Transducing LRBA protein, human EC 2.7.10.- |
| Résumé: | Copyright © 2015 Elsevier Inc. All rights reserved. Mutations in LPS-responsive and beige-like anchor (LRBA) gene were recently described in patients with combined immunodeficiency, enteropathy and autoimmune cytopenia. Here, we extend the clinical and immunological phenotypic spectrum of LRBA associated disorders by reporting on three patients from two unrelated families who presented with splenomegaly and lymphadenopathy, cytopenia, elevated double negative T cells and raised serum Fas ligand levels resembling autoimmune lymphoproliferative syndrome (ALPS) and one asymptomatic patient. Homozygous loss of function mutations in LRBA were identified by whole exome analysis. Similar to ALPS patients, Fas mediated apoptosis was impaired in LRBA deficient patients, while apoptosis in response to stimuli of the intrinsic mitochondria mediated apoptotic pathway was even enhanced. This manuscript illustrates the phenotypic overlap of other primary immunodeficiencies with ALPS-like disorders and strongly underlines the necessity of genetic diagnosis in order to provide early correct diagnosis and subsequent care |
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| Description: | Date Completed 24.08.2015 Date Revised 13.06.2015 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2015.04.007 |