Clinical relevant Bruton’s X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation
Female carriers of pathogenic mutations in BTK may develop clinically important disease as a result of extreme random X inactivation.
Authors
- Solafa Noorsaeed (ORCID: https://orcid.org/0009-0005-4527-7876)
- Abdulaziz S Alrafiaah
- Adam J. Shapiro (ORCID: https://orcid.org/0000-0001-6066-6750)
- Manar Alghamdi
- Christine McCusker (ORCID: https://orcid.org/0000-0003-2150-9159)
Institutions
- King Abdulaziz University (SA)
- Majmaah University (SA)
- Montreal Children's Hospital (CA)
- McGill University Health Centre (CA)
Publication Details
- Journal
- Allergy Asthma and Clinical Immunology
- Published
- 2025-12-02
- DOI
- https://doi.org/10.1186/s13223-025-01002-0
- Primary Topic
- Chronic Lymphocytic Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00