What question did this study set out to answer?

To review primary immunodeficiencies linked to impaired PI3K/AKT/mTOR/S6K signaling and propose the unifying classification of immune TOR-opathies to guide targeted therapies.

May 9, 2018Frontiers in ImmunologyOpen Access

“Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology

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To review primary immunodeficiencies linked to impaired PI3K/AKT/mTOR/S6K signaling and propose the unifying classification of immune TOR-opathies to guide targeted therapies.
Reviewed monogenic primary immunodeficiencies associated with loss- or gain-of-function mutations affecting the PI3K/AKT/mTOR/S6K signaling cascade.
Synthesized overlapping clinical phenotypes characterized by concurrent immunodeficiency and autoimmunity through comparison with neurological TOR-opathies.
Demonstrated that divergent genetic mutations within the PI3K/AKT/mTOR/S6K cascade converge on identical regulatory pathways, producing overlapping immunodeficiency and autoimmune manifestations.
Established the disease category of immune TOR-opathies to define these shared molecular defects and facilitate precision therapeutic targeting of aberrant mTOR signaling.

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Implication

Narrative review characterizes primary immunodeficiencies driven by PI3K/AKT/mTOR defects as immune TOR-opathies, highlighting pathways for targeted therapeutic intervention.

Cite This Study

Jung et al. (2018) studied this question.

synapsesocial.com/papers/6ab078970b3b58ce92a3db94 https://doi.org/10.3389/fimmu.2018.00966

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Implication

Narrative review characterizes primary immunodeficiencies driven by PI3K/AKT/mTOR defects as immune TOR-opathies, highlighting pathways for targeted therapeutic intervention.

“Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology

Key Points

Discussion

Implication

Cite This Study

“Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology

Key Points

Discussion

Implication

Cite This Study

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