CD40 ligand deficiency
Information
- Disease name
- CD40 ligand deficiency
- Disease ID
- DOID:0060022
- Description
- "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30681380]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03333486 | Active, not recruiting | Phase 2 | Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer | December 7, 2017 | August 28, 2024 |
| NCT01652092 | Recruiting | N/A | Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies | September 4, 2012 | December 2026 |
- Disase is a (Disease Ontology)
- DOID:628
- Cross Reference ID (Disease Ontology)
- MIM:308230
- Exact Synonym (Disease Ontology)
- HIGMX-1
- Exact Synonym (Disease Ontology)
- X-linked hyper-IgM syndrome