Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology.

Autor: Takeda AJ; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Maher TJ; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Zhang Y; Clinical Genomics Program and Molecular Development of the Immune System Section, Laboratory of Immunology, NIAID, NIH, Bethesda, MD, USA.; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA., Lanahan SM; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Bucklin ML; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Compton SR; Department of Comparative Medicine, Yale University, New Haven, CT, USA., Tyler PM; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Comrie WA; Clinical Genomics Program and Molecular Development of the Immune System Section, Laboratory of Immunology, NIAID, NIH, Bethesda, MD, USA., Matsuda M; Laboratory of Molecular Biology, Medical Research Council, Cambridge, UK., Olivier KN; Pulmonary Branch, Division of Intramural Research, NHLBI, NIH, Bethesda, MD, USA., Pittaluga S; Laboratory of Pathology, Clinical Center, NCI, NIH, Bethesda, MD, USA., McElwee JJ; Merck Research Laboratories, Merck & Co, Boston, MA, USA., Long Priel DA; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Kuhns DB; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Williams RL; Laboratory of Molecular Biology, Medical Research Council, Cambridge, UK., Mustillo PJ; Division of Infectious Diseases and Immunology, Nationwide Children's Hospital, Columbus, OH, USA., Wymann MP; University of Basel, Department of Biomedicine, Basel, Switzerland., Koneti Rao V; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA., Lucas CL; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA. Carrie.Lucas@yale.edu.

Publikováno v: Nature communications [Nat Commun] 2019 Sep 25; Vol. 10 (1), pp. 4364. Date of Electronic Publication: 2019 Sep 25.

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.

Publikováno v: 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.

Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1.

Autor: Jiang, Lu¹ (AUTHOR), Hu, Xiaohan² (AUTHOR), Lin, Qiang¹ (AUTHOR), Chen, Ruyue¹ (AUTHOR), Shen, Yunyan¹ (AUTHOR), Zhu, Yun¹ (AUTHOR), Xu, Qinying¹ (AUTHOR), Li, Xiaozhong¹ (AUTHOR) xiaozhonglicn@yeah.net

Publikováno v: Allergy, Asthma & Clinical Immunology. 9/23/2023, Vol. 19 Issue 1, p1-6. 6p.

Comparison of mouse models of microbial experience reveals differences in microbial diversity and response to vaccination.

Autor: Sanders, Autumn E., Arnesen, Henriette, Shepherd, Frances K., Putri, Dira S., Fiege, Jessica K., Pierson, Mark J., Roach, Shanley N., Carlsen, Harald, Masopust, David, Boysen, Preben, Langlois, Ryan A.

Publikováno v: MSphere; Feb2024, Vol. 9 Issue 2, p1-8, 8p

Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys.

Autor: Ewertowska, Marlena^1,2 (AUTHOR), Grześk, Elżbieta² (AUTHOR), Urbańczyk, Anna^1,2 (AUTHOR), Dąbrowska, Anna² (AUTHOR), Bąbol-Pokora, Katarzyna³ (AUTHOR), Łęcka, Monika² (AUTHOR), Kołtan, Sylwia² (AUTHOR) s.koltan@cm.umk.pl

Publikováno v: Allergy, Asthma & Clinical Immunology. 4/1/2020, Vol. 16 Issue 1, p1-7. 7p.