Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan
Copyright © 2018 Elsevier Inc. All rights reserved.
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 198(2019) vom: 15. Jan., Seite 100-101 |
|---|---|
| Auteur principal: | |
| Autres auteurs: | , |
| Format: | Article en ligne |
| Langue: | English |
| Publié: |
2019
|
| Accès à la collection: | Clinical immunology (Orlando, Fla.) |
| Sujets: | Case Reports Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Autosomal Recessive Agammaglobulinemia Primary immunodeficiency TCF3 gene Basic Helix-Loop-Helix Transcription Factors TCF3 protein, human |
| Résumé: | Copyright © 2018 Elsevier Inc. All rights reserved. Autosomal Recessive Agammaglobulinemia (ARA) is an uncommon type of primary immunodeficiency characterized by mutations in genes responsible for early B cell differentiation and function. One such gene is the TCF3 gene, which encodes a transcription factor important for immunoglobulin gene expression. We present the case of a 9 year old girl with history of diarrhea and recurrent pneumonias. Laboratory investigation showed significantly reduced levels of immunoglobulins along with a significant fall in the number of CD19+ cells. Genetic analysis identified a TCF3 gene base deletion covering exons 5-11 |
|---|---|
| Description: | Date Completed 28.10.2019 Date Revised 28.10.2019 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2018.07.016 |