Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

被引：0

作者：

Carrie L Lucas

Hye Sun Kuehn

Fang Zhao

Julie E Niemela

Elissa K Deenick

Umaimainthan Palendira

Danielle T Avery

Leen Moens

Jennifer L Cannons

Matthew Biancalana

Jennifer Stoddard

Weiming Ouyang

David M Frucht

V Koneti Rao

T Prescott Atkinson

Anahita Agharahimi

Ashleigh A Hussey

Les R Folio

Kenneth N Olivier

Thomas A Fleisher

Stefania Pittaluga

Steven M Holland

Jeffrey I Cohen

Joao B Oliveira

Stuart G Tangye

Pamela L Schwartzberg

Michael J Lenardo

Gulbu Uzel

机构：

[1] Molecular Development of the Immune System Section,Department of Laboratory Medicine

[2] Laboratory of Immunology,Division of Monoclonal Antibodies

[3] National Institute of Allergy and Infectious Diseases,Division of Allergy and Immunology, Department of Pediatrics

[4] National Institutes of Health,undefined

[5] Clinical Center,undefined

[6] National Institutes of Health,undefined

[7] Cell Signaling Section,undefined

[8] Genetic Disease Research Branch,undefined

[9] National Human Genome Research Institute,undefined

[10] National Institutes of Health,undefined

[11] Pritzker School of Medicine,undefined

[12] The University of Chicago,undefined

[13] Immunology and Immunodeficiency Group,undefined

[14] Immunology Program,undefined

[15] Garvan Institute of Medical Research,undefined

[16] St. Vincent's Clinical School Faculty of Medicine,undefined

[17] University of New South Wales,undefined

[18] Laboratory of Cell Biology,undefined

[19] Office of Biotechnology Products,undefined

[20] Center for Drug Evaluation and Research,undefined

[21] United States Food and Drug Administration,undefined

[22] University of Alabama at Birmingham,undefined

[23] Laboratory of Clinical Infectious Diseases,undefined

[24] National Institute of Allergy and Infectious Diseases,undefined

[25] National Institutes of Health,undefined

[26] Laboratory of Clinical Infectious Diseases,undefined

[27] Clinical Research Directorate–Clinical Monitoring Research Program,undefined

[28] Science Applications International Corporation–Frederick,undefined

[29] Frederick National Laboratory for Clinical Research,undefined

[30] Radiology and Imaging and Sciences,undefined

[31] Clinical Center,undefined

[32] National Institutes of Health,undefined

[33] Laboratory of Pathology,undefined

[34] National Cancer Institute,undefined

[35] National Institutes of Health,undefined

[36] Laboratory of Infectious Diseases,undefined

[37] National Institute of Allergy and Infectious Diseases,undefined

[38] National Institutes of Health,undefined

[39] Instituto de Medicina Integral Prof. Fernando Figueira,undefined

来源：

Nature Immunology | 2014年 / 15卷

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学科分类号：

摘要：

Lymphocyte function is regulated by phosphatidylinositol-dependent pathways. Uzel and colleagues identify a cohort of immunodeficient patients with hyperactive phosphatidylinositol-3-OH kinase activity due to mutant p110δ subunits, which results in enhanced senescence of cells of the immune system.

引用

页码：88 / 97

页数：9

共 50 条

[1] Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
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Kuehn, Hye Sun
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