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

Autor: Takeda AJ; Department of Immunobiology, Yale University School of Medicine, New Haven, Conn., Zhang Y; 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., Dornan GL; Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada., Siempelkamp BD; Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada., Jenkins ML; Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada., Matthews HF; 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., McElwee JJ; Merck Research Laboratories, Merck & Co, Boston, Mass., Bi W; Molecular and Human Genetics/Cytogenetics Laboratory, Baylor College of Medicine, Houston, Tex., Seeborg FO; Department of Pediatrics, Section of Immunology Allergy and Rheumatology, Baylor College of Medicine, Houston, Tex., Su HC; 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., Burke JE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada., Lucas CL; Department of Immunobiology, Yale University School of Medicine, New Haven, Conn. Electronic address: Carrie.Lucas@yale.edu.
Jazyk: angličtina
Zdroj: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2017 Oct; Vol. 140 (4), pp. 1152-1156.e10. Date of Electronic Publication: 2017 Apr 13.
DOI: 10.1016/j.jaci.2017.03.026
Databáze: MEDLINE