X-linked agammaglobulinemia
Information
- Disease name
- X-linked agammaglobulinemia
- Disease ID
- DOID:14179
- Description
- "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement." [url:http\://en.wikipedia.org/wiki/X-linked_agammaglobulinemia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001307.htm]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01289847 | Completed | Phase 4 | A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency | March 2011 | April 2014 |
| NCT00542997 | Completed | Phase 3 | Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy | September 2007 | August 2009 |
| NCT05321407 | Recruiting | COVID-19 Vaccine Responses in PIDD Subjects | September 24, 2021 | December 31, 2024 | |
| NCT01821781 | Recruiting | Phase 2 | Immune Disorder HSCT Protocol | March 2013 | March 2027 |
| NCT02960399 | Terminated | N/A | Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older | December 2015 | December 2017 |
| NCT00006054 | Terminated | N/A | Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies | March 2000 | December 2002 |
| NCT00004341 | Unknown status | Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders | July 1995 |
- Disase is a (Disease Ontology)
- DOID:2583
- Cross Reference ID (Disease Ontology)
- MESH:C537409
- Cross Reference ID (Disease Ontology)
- MIM:300755
- Cross Reference ID (Disease Ontology)
- NCI:C3822
- Cross Reference ID (Disease Ontology)
- ORDO:47
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:65880007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0221026
- Exact Synonym (Disease Ontology)
- Bruton agammaglobulinemia tyrosine kinase deficiency
- Exact Synonym (Disease Ontology)
- Bruton disease
- Exact Synonym (Disease Ontology)
- Bruton's agammaglobulinaemia
- Exact Synonym (Disease Ontology)
- Bruton's Sex-Linked Agammaglobulinemia
- Exact Synonym (Disease Ontology)
- Bruton's type agammaglobulinemia
- Exact Synonym (Disease Ontology)
- Bruton-type agammaglobulinemia
- Exact Synonym (Disease Ontology)
- BTK deficiency
- OrphaNumber from OrphaNet (Orphanet)
- 47