Case Report: Novel MAGT1 pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections - PubMed
6 hours ago
- #AlphaFold
- #MAGT1
- #XMEN disease
- A 6-year-old male with a novel MAGT1 pathogenic variant presented with atopy, hypogammaglobulinemia, and viral skin infections.
- Genetic testing identified a hemizygous MAGT1 variant (c.580dup; p.Ser194Phefs*3), leading to XMEN disease diagnosis.
- Flow cytometry confirmed disrupted NKG2D surface expression on CD8 T cells and NK cells, and glycosylation defects were verified.
- AlphaFold analysis revealed the variant's impact on protein structure, preventing tethering to the OST-B complex.
- Treatment included infection control, steroids, immunotherapy, topical antivirals, and EBV monitoring.
- The case highlights the use of multidisciplinary approaches and advanced tools like AlphaFold in diagnosing IEI.