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

Sun Oct 29 17:38:40 EDT 2017

We have had good response to sirolimus after Rituxan as well

Gary Kleiner MDPhD

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<https://na01.safelinks.protection.outlook.com/?url=http%3A%2F%2Forcid.org%2F0000-0001-6917-8980&data=02%7C01%7Cgary.kleiner%40med.miami.edu%7Ccb570da4d76e4d58339e08d51f0d915c%7C2a144b72f23942d48c0e6f0f17c48e33%7C0%7C0%7C636449065497664912&sdata=9R%2F8oj3dCJtH6lJPJvcRsPBoVENdgW6FLRFi1fWA3vY%3D&reserved=0>
Researcher ID: B-9257-2009
ResearchGate:https://www.researchgate.net/profile/Luis_Gonzalez-Granado<https://na01.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.researchgate.net%2Fprofile%2FLuis_Gonzalez-Granado&data=02%7C01%7Cgary.kleiner%40med.miami.edu%7Ccb570da4d76e4d58339e08d51f0d915c%7C2a144b72f23942d48c0e6f0f17c48e33%7C0%7C0%7C636449065497664912&sdata=3dwjKYdsdyjc%2Bz0TlJsyI6V341ss8RXUaxkgY9UYTKs%3D&reserved=0>
LinkedIn:  https://es.linkedin.com/in/nachgonzalez<https://na01.safelinks.protection.outlook.com/?url=https%3A%2F%2Fes.linkedin.com%2Fin%2Fnachgonzalez&data=02%7C01%7Cgary.kleiner%40med.miami.edu%7Ccb570da4d76e4d58339e08d51f0d915c%7C2a144b72f23942d48c0e6f0f17c48e33%7C0%7C0%7C636449065497664912&sdata=NRxbRFDGEBc9UKKv9WAvMvYPo4ZsSt1020aSE%2BdW7AM%3D&reserved=0>

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

CONFIDENTIALITY NOTICE: This e-mail message, including any attachments,
is for the sole use of the intended recipient(s) and may contain confidential
or legally privileged information. Any unauthorized review, use, disclosure
or distribution is prohibited. If you are not the intended recipient, please
contact the sender by reply e-mail and destroy all copies of this original message.

---

You are currently subscribed to cis-pidd as: nachgonzalez at gmail.com<mailto:nachgonzalez at gmail.com>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396812.66aedac07f1044b5f6e7c94e3e51e2ac&n=T&l=cis-pidd&o=4637378<https://na01.safelinks.protection.outlook.com/?url=http%3A%2F%2Fcts.dundee.net%2Fu%3Fid%3D96396812.66aedac07f1044b5f6e7c94e3e51e2ac%26n%3DT%26l%3Dcis-pidd%26o%3D4637378&data=02%7C01%7Cgary.kleiner%40med.miami.edu%7Ccb570da4d76e4d58339e08d51f0d915c%7C2a144b72f23942d48c0e6f0f17c48e33%7C0%7C0%7C636449065497664912&sdata=XKsBQtnjDE%2BmE9hSmCCfMzYtq8rDCiyr2Sjnp5XJIt4%3D&reserved=0>

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-4637378-96396812.66aedac07f1044b5f6e7c94e3e51e2ac at lyris.dundee.net<mailto:leave-4637378-96396812.66aedac07f1044b5f6e7c94e3e51e2ac at lyris.dundee.net>

---

You are currently subscribed to cis-pidd as: gary.kleiner at med.miami.edu<mailto:gary.kleiner at med.miami.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396553.8c881ec3e86c44c5e912aaf64dd10860&n=T&l=cis-pidd&o=4637383<https://na01.safelinks.protection.outlook.com/?url=http%3A%2F%2Fcts.dundee.net%2Fu%3Fid%3D96396553.8c881ec3e86c44c5e912aaf64dd10860%26n%3DT%26l%3Dcis-pidd%26o%3D4637383&data=02%7C01%7Cgary.kleiner%40med.miami.edu%7Ccb570da4d76e4d58339e08d51f0d915c%7C2a144b72f23942d48c0e6f0f17c48e33%7C0%7C0%7C636449065497664912&sdata=OBmlMp%2FIeusaKvMH%2F2KXcL%2B39bYZr%2BBy1AiDn%2BGtiII%3D&reserved=0>

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-4637383-96396553.8c881ec3e86c44c5e912aaf64dd10860 at lyris.dundee.net<mailto:leave-4637383-96396553.8c881ec3e86c44c5e912aaf64dd10860 at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4637419
or send a blank email to leave-4637419-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20171029/774f2000/attachment-0001.html>