Case Report: Novel MAGT1 pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections
This case illustrates how a synergistic multi-disciplinary team approach established a diagnosis of XMEN disease in a patient with an atypical clinical presentation. This case also highlights a growing trend where established diagnostic tools such as flow-cytometry and genomics can be complemented with newer, sophisticated analytical approaches such as AlphaFold to further elucidate the functionally crippling effects of novel variants described in the setting of IEI.
Authors
- Aaruni Khanolkar
- Christopher P. Ptak (ORCID: https://orcid.org/0000-0003-2752-0367)
- Madeline Schutt (ORCID: https://orcid.org/0000-0001-9870-4716)
- Elizabeth Lippner (ORCID: https://orcid.org/0000-0002-5148-3394)
- Amer Khojah (ORCID: https://orcid.org/0000-0003-3357-4863)
- Lauren Gunderman
- Kento Yahashiri
- Aisha Ahmed
Institutions
- University of Iowa (US)
- Umm al-Qura University (SA)
- University of Washington (US)
- Northwestern University (PH)
- University of Northwestern (US)
- Seattle Children's Hospital (US)
- Lurie Children's Hospital (US)
- Resonance Research (United States) (US)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2026-02-16
- DOI
- https://doi.org/10.3389/fimmu.2026.1754394
- Primary Topic
- Magnesium in Health and Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00