Case Report: First occurrence of smoldering multiple myeloma in activated phosphoinositide 3-Kinase δ syndrome - Scorecard - MDSpire

Case Report: First occurrence of smoldering multiple myeloma in activated phosphoinositide 3-Kinase δ syndrome

  • By

  • Yanqiu Li

  • Linlin Huang

  • Wenhua He

  • Xin Wang

  • Ningning Tang

  • Dongmei Zhu

  • Xingli Jia

  • Chao Ding

  • June 11, 2026

  • 0 min

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Clinical Scorecard: First Report of Smoldering Multiple Myeloma Associated with Activated Phosphoinositide 3-Kinase δ Syndrome

At a Glance

CategoryDetail
Condition
Key MechanismsHeterozygous mutations in PIK3CD or PIK3R1 lead to immune dysregulation, increasing susceptibility to infections and tumors.
Target Population
Care Setting

Key Highlights

  • additional_context

Guideline-Based Recommendations

Diagnosis

    Management

    • Immunoglobulin replacement therapy.
    • Antibiotic prophylaxis.
    • mTOR inhibitors and HSCT as treatment options, particularly in severe cases.

    Monitoring & Follow-up

      Risks

        Patient & Prescribing Data

        Leniolisib, an mTOR inhibitor, targets PI3Kδ signaling, crucial for managing APDS.

        Clinical Best Practices

        • Early genetic testing for patients with recurrent infections and lymphoproliferation.
        • Multidisciplinary approach involving hematology and immunology specialists for comprehensive care.

        Related Resources & Content

        Original Source(s)

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