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PI3K pathway defects leading to immunodeficiency and immune dysregulation

Nunes-Santos, Cristiane J. ; Uzel, Gulbu ; Rosenzweig, Sergio D.

Journal of allergy and clinical immunology, 2019-05, Vol.143 (5), p.1676-1687 [Periódico revisado por pares]

United States: Elsevier Inc

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Título:
PI3K pathway defects leading to immunodeficiency and immune dysregulation
Autor: Nunes-Santos, Cristiane J. ; Uzel, Gulbu ; Rosenzweig, Sergio D.
Assuntos: 1-Phosphatidylinositol 3-kinase ; activated phosphoinositide 3–kinase δ syndrome ; Cell survival ; Defects ; Deoxyribonucleic acid ; DNA ; Genes ; Genetic testing ; Homology ; Immune system ; Immunodeficiency ; Immunoglobulins ; Kinases ; Laboratories ; Lymphocytes ; mechanistic target of rapamycin pathway ; Metabolism ; Mutation ; p110δ ; p85α ; Phenotypes ; Phosphatase ; phosphatase and tensin homolog ; Phosphatidylinositol 3–kinase δ ; PIK3CD ; PIK3R1 ; Proteins ; PTEN protein ; Signal transduction ; Tensin ; Tuberculosis
É parte de: Journal of allergy and clinical immunology, 2019-05, Vol.143 (5), p.1676-1687
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-2
Descrição: The phosphatidylinositol 3–kinase (PI3K) signaling pathway is involved in a broad range of cellular processes, including growth, metabolism, differentiation, proliferation, motility, and survival. The PI3Kδ enzyme complex is primarily present in the immune system and comprises a catalytic (p110δ) and regulatory (p85α) subunit. Dynamic regulation of PI3Kδ activity is required to ensure normal function and differentiation of immune cells. In the last decade, discovery of germline mutations in genes involved in the PI3Kδ pathway (PIK3CD, PIK3R1, or phosphatase and tensin homolog [PTEN]) proved that both overactivation and underactivation (gain of function and loss of function, respectively) of PI3Kδ lead to impaired and dysregulated immunity. Although a small group of patients reported to underactivate PI3Kδ show predominantly humoral defects and autoimmune features, more than 200 patients have been described with overactivation of PI3Kδ, presenting with a much more complex phenotype of combined immunodeficiency and immune dysregulation. The clinical and immunologic characterization, as well as current pathophysiologic understanding and specific therapies for PI3K pathway defects leading to immunodeficiency and immune dysregulation, are reviewed here.
Editor: United States: Elsevier Inc
Idioma: Inglês

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PI3K pathway defects leading to immunodeficiency and immune dysregulation

Nunes-Santos, Cristiane J. ; Uzel, Gulbu ; Rosenzweig, Sergio D.

United States: Elsevier Inc

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