Article
Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants.
The Journal of allergy and clinical immunology - 1 Sept 2023
Edwards Emily S J, Ojaimi Samar, Ngui James, Seo Go Hun, Kim JiHye, Chunilal Sanjeev, Yablonski Deborah, O'Hehir Robyn E, van Zelm Menno C
Abstract excerpt
BACKGROUND: Inborn errors affecting components of the T-cell receptor signaling cascade cause combined immunodeficiency with various degrees of severity. Recently, homozygous variants in LCP2 were reported to cause pediatric onset of severe combined immunodeficiency with neutrophil, platelet, and T- and B-cell defects. OBJECTIVE: We sought to unravel the genetic cause of combined immunodeficiency and early-onset...
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