Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans

Affiliations

• ¹ Department of Immunobiology, Yale University School of Medicine, New Haven, Conn.
• ² Human Immunological Diseases Section, Laboratory of Host Defense and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
• ³ Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada.
• ⁴ Clinical Genomics Program and Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
• ⁵ Merck Research Laboratories, Merck & Co, Boston, Mass.
• ⁶ Molecular and Human Genetics/Cytogenetics Laboratory, Baylor College of Medicine, Houston, Tex.
• ⁷ Department of Pediatrics, Section of Immunology Allergy and Rheumatology, Baylor College of Medicine, Houston, Tex.
• ⁸ Department of Immunobiology, Yale University School of Medicine, New Haven, Conn. Electronic address: Carrie.Lucas@yale.edu.