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Although immune dysregulation is not very pronounced in Tatton-Brown-Rahman syndrome, severe immunodeficiency and hypogammaglobulinemia are a hallmark of ICF syndrome type 1, which causes the patients to succumb to infectious diseases before adulthood (141, 146, 150, 151, 153, 270)

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The side-chain guanidyl group of Arg454 interacts with the carboxylate moiety of glycine to orient the substrate for attack on the acyl-phosphate intermediate (Herrera et al., 2007)

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