[CIS PIDD] [cis-pidd] 2yo with PIK3CD activating mutation

[CIS-PIDD]

Colleagues:



I will be consulting on a 2yo who was diagnosed recently with an activating mutation of PIK3CD causing activated PIK3CD syndrome (APDS).



She is on IVIG, but her cervical lymphadenopathy has progressed.  The NIH protocol for the selective PIK3CD inhibitor, CDZ173, Leniolisibtm is recruiting, but only for patients 12 years of age and older.



Idelalisibtm is also a PIK3CD inhibitor and approved for a few lymphoid malignancies, but the side effects seem unacceptable in this situation.



I treated one 10yo boy with rituximab prior to the reports of APDS and the patient's eventual genetic diagnosis.  He suffered from extraordinary lymphadenopathy and hepatosplenomegaly, very severe reactions to IVIG and failure to thrive.  The hepatosplenomegaly and lymphadenopathy responded to rituximab literally overnight, and resolved after about 2 weeks.  Subsequently he tolerated IVIG without adverse reactions, but required rituximab infusions every 6 months.  He moved out of the LA area and I have not seen him in several years.



Has anyone else treated APDS with rituximab?



Is there any place for corticosteroids in this scenario?



Any suggestions would be most welcome.



Joe Church, MD

Children's Hospital Los Angeles





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