Case Report: First occurrence of smoldering multiple myeloma in activated phosphoinositide 3-Kinase δ syndrome
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By
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Yanqiu Li
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Linlin Huang
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Wenhua He
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Xin Wang
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Ningning Tang
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Dongmei Zhu
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Xingli Jia
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Chao Ding
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June 11, 2026
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Clinical Scorecard: First Report of Smoldering Multiple Myeloma Associated with Activated Phosphoinositide 3-Kinase δ Syndrome
At a Glance
| Category | Detail |
| Condition | |
| Key Mechanisms | Heterozygous mutations in PIK3CD or PIK3R1 lead to immune dysregulation, increasing susceptibility to infections and tumors. |
| Target Population | |
| Care Setting | |
Key Highlights
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.
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