Novel PIK3CD mutations affecting N-terminal residues of p110δ cause APDS1 in humans by Takeda, Andrew J., BSc, Zhang, Yu, PhD, Dornan, Gillian L., BSc, Siempelkamp, Braden D., BSc, Jenkins, Meredith L., BSc, Matthews, Helen F., BSN, McElwee, Joshua J., PhD, Bi, Weimin, PhD, Seeborg, Filiz O., MD, Su, Helen C., MD, PhD, Burke, John E., PhD, Lucas, Carrie L., PhD

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Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment by Zhang, Yu, PhD, Yu, Xiaomin, PhD, Ichikawa, Mie, BSc, Lyons, Jonathan J., MD, Datta, Shrimati, PhD, Lamborn, Ian T., BSc, Jing, Huie, PhD, Kim, Emily S., BSc, Biancalana, Matthew, BSc, Wolfe, Lynne A., CRNP, DiMaggio, Thomas, ADN, Matthews, Helen F., BSN, Kranick, Sarah M., MD, Stone, Kelly D., MD, PhD, Holland, Steven M., MD, Reich, Daniel S., MD, PhD, Hughes, Jason D., PhD, Mehmet, Huseyin, PhD, McElwee, Joshua, PhD, Freeman, Alexandra F., MD, Freeze, Hudson H., PhD, Su, Helen C., MD, PhD, Milner, Joshua D., MD

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Convergence of Clinical and Cellular Phenotypes Among Patients with STAT3 and ERBB2IP Mutations by Lyons, Jonathan J., MD, Yu, Xiaomin, PhD, Karpe, Kendal A., BS, Treadwell, Shirin M., MS, Ma, Chi A., PhD, O'Connell, Michael P., PhD, Sun, Guangping, MD, Hughes, Jason D., PhD, Mehmet, Huseyin, PhD, McElwee, Joshua, PhD, Holland, Steven M., MD, Freeman, Alexandra F., MD, Milner, Joshua D., MD

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