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

[CIS-PIDD]

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. *0034**606732959 / * 0034913908569  /  Fax 0034913908772
<0034934893039>luisignacio.gonzalez at salud.madrid.org
<luisignacio.hdoc at salud.madrid.org>ORCID ID:  orcid.org/0000-0001-6917-8980
Researcher ID: B-9257-2009ResearchGate:
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>:

>
>
> 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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