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J Allergy Clin Immunol. 2017 Oct;140(4):1152-1156.e10. doi: 10.1016/j.jaci.2017.03.026. Epub 2017 Apr 13.

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

Author information

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.

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