A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity
Copyright © 2014 Elsevier Inc. All rights reserved.
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 153(2014), 2 vom: 15. Aug., Seite 288-91 |
|---|---|
| Auteur principal: | |
| Autres auteurs: | , , , , , , , |
| Format: | Article en ligne |
| Langue: | English |
| Publié: |
2014
|
| Accès à la collection: | Clinical immunology (Orlando, Fla.) |
| Sujets: | Case Reports Journal Article Research Support, Non-U.S. Gov't CD40 ligand Common variable immunodeficiency Schwannoma CD40 Antigens CD40 Ligand 147205-72-9 |
| Résumé: | Copyright © 2014 Elsevier Inc. All rights reserved. Mutations in CD40 ligand (CD40L) that permit residual CD40L expression typically impair binding of CD40. We report a male patient who presented with recurrent bacterial respiratory tract infections, normal IgM, decreased IgG, absent IgA levels, and CD40L expression at ~50% of the level observed in the normal control. He subsequently developed autoimmunity, inflammatory bowel disease, severe opportunistic infections suggestive of a combined immunodeficiency, and a cervical spine schwannoma. Whole exome sequencing of the patient's genomic DNA revealed a novel missense mutation (p.H47Y) in CD40L. Although this mutation was predicted to be benign in silico, flow cytometry at 13 years of age demonstrated markedly decreased CD40L expression (~32% of normal control) that retained the capacity to bind soluble CD40-Ig, suggesting that the mutation impairs CD40L surface expression without affecting its affinity for CD40. This case highlights the variability in the clinical evolution and phenotype of CD40L deficiency |
|---|---|
| Description: | Date Completed 05.09.2014 Date Revised 16.11.2017 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2014.05.001 |