Article
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
The Journal of allergy and clinical immunology - 1 Jan 2022
Baxter Sarah K, Walsh Tom, Casadei Silvia, Eckert Mary M, Allenspach Eric J, Hagin David, Segundo Gesmar, Lee Ming K, Gulsuner Suleyman, Shirts Brian H, Sullivan Kathleen E, Keller Michael D, Torgerson Troy R, King Mary-Claire
Abstract excerpt
BACKGROUND: Most patients with childhood-onset immune dysregulation, polyendocrinopathy, and enteropathy have no genetic diagnosis for their illness. These patients may undergo empirical immunosuppressive treatment with highly variable outcomes. OBJECTIVE: We sought to determine the genetic basis of disease in patients referred with Immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like (IPEX-like)...
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