Article

X-linked lymphoproliferative disease type 1 (XLP1) due to a “de novo” missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency

2025-06-25

Abstract excerpt

<title>Abstract</title> <p>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 i...

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Literature Corpus work: 4b1454c6-f3d1-5d72-8fa9-977faf81e19e
DOI: 10.21203/rs.3.rs-6649535/v1

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