Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans
Takeda AJ, Zhang Y, Dornan GL, Siempelkamp BD, Jenkins ML, Matthews HF, McElwee JJ, Bi W, Seeborg FO, Su HC, Burke JE, Lucas CL. Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans. Journal Of Allergy And Clinical Immunology 2017, 140: 1152-1156.e10. PMID: 28414062, PMCID: PMC5632585, DOI: 10.1016/j.jaci.2017.03.026.Peer-Reviewed Original Research