Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management
The simultaneous presence of multiple homozygous VUSs emphasizes a major challenge in the genetic diagnosis of highly consanguinous patients. Functional workup as well as familial segregation studies are needed to clarify variant pathogenicity and provide a definitive diagnosis and tailored treatment strategies for these patients. Our studies suggest that the <i>AICDA</i> p.W80S variant is pathogenic, while the <i>IKBKB</i> p.R77Q variant is likely benign.
Authors
- Bernice Lo (ORCID: https://orcid.org/0000-0002-1087-6845)
- Mohammed Yousuf Karim (ORCID: https://orcid.org/0000-0003-0912-1629)
- Satanay Hubrack (ORCID: https://orcid.org/0000-0003-1095-7386)
- Mohamed Alsabbagh
- Asha Elmi
- Rafah Mackeh (ORCID: https://orcid.org/0000-0003-3648-2198)
- Nourhen Agrebi (ORCID: https://orcid.org/0000-0001-5703-9668)
- Saleema C. Purayil
- Amel Hassan (ORCID: https://orcid.org/0000-0001-5963-8402)
- Abdulwahab Almos Mohammed R. H. A. Al-Marri
Institutions
- Qatar Airways (Qatar) (QA)
- Sidra Medical and Research Center (QA)
- Hamad bin Khalifa University (QA)
- Hamad Medical Corporation (QA)
- Qatar University (QA)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-06-02
- DOI
- https://doi.org/10.3389/fimmu.2025.1594636
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sidra Medicine
- Fonds National de la Recherche Luxembourg
- Qatar National Research Fund