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

[CIS-PIDD]

Dear Joe,

We also have had very good results with sirolimus

Gigi Notarangelo

Sent from my iPhone

On Oct 29, 2017, at 4:42 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear Joe,
I treated one patient with APDS2 after MALT lymphoma with RTX (BTW, it was difficult to diagnose) and it worked (4 standard doses). I think RTX would have worked prior to lymphoma diagnosis as well. Fortunately he had one MSD and HSCT cured him. Your patient is too young... I would go plan HSCT, of course you can buy time for the transplant with steroids. However, sirolimus may be a more specific option
All the best
Nacho

Luis I. Gonzalez-Granado. MD.
Immunodeficiencies Unit.
Hospital 12 de octubre.
Research Institute Hospital 12 octubre (i+12)
Av. Cordoba S/N. 28041. Madrid. Spain
Tel. 0034606732959 /  0034913908569  /  Fax 0034913908772<tel:0034934893039>
luisignacio.gonzalez at salud.madrid.org<mailto:luisignacio.hdoc at salud.madrid.org>
ORCID ID:  orcid.org/0000-0001-6917-8980<http://orcid.org/0000-0001-6917-8980>
Researcher ID: B-9257-2009
ResearchGate:https://www.researchgate.net/profile/Luis_Gonzalez-Granado
LinkedIn:  https://es.linkedin.com/in/nachgonzalez

2017-10-29 21:33 GMT+01:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>:



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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