ArticleResearch square2025
X-linked lymphoproliferative disease type 1 (XLP1) due to a "de novo" missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency.
Article in Research square, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: The SAP-SLAM receptor system plays a critical role in immune regulation, with SAP deficiency leading to apoptosis resistance in T cells and disrupting immune homeostasis, as seen in XLP-1. This disorder, characterized by uncontrolled lymphoproliferation, often presents with a variable clinical spectrum. Methods: We report a case of XLP-1 with dysgammaglobulinemia in a patient initially diagnosed with pediatric-onset CVID. Through quantitative and functional analysis of the Results: Our findings demonstrate that this variant significantly impairs B cell differentiation and proliferation independently of T cell interactions. Conclusion: These results support the pathogenic nature of
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