[CIS PIDD] [cis-pidd] 12yo boy with Hodgkins and ADA deficiency

Tue May 10 20:09:17 EDT 2016

Dear Joe & colleagues,

We have encountered a patient with ADA SCID who developed an EBV+ monomorphic lymphoma while on adagen, so oddly enough it can happen.  She unfortunately did not respond to EBV CTLs (seemingly they did not survive in absence of ADA) and cytoreductive therapy.

Mike

Michael Keller MD
Childrens National Medical Center

Sent from my iPhone

On May 10, 2016, at 7:34 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Thank you, John and Rob.  Your comments were very helpful.  Joe Church

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Tuesday, May 10, 2016 8:14 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] 12yo boy with Hodgkins and ADA deficiency

Joe, sorry. John

John L. Sullivan, M.D.
Professor and Senior Scientific Advisor
Program in Molecular Medicine
University of Massachusetts Medical School
373 Plantation St, Suite 200
Worcester, MA 01605
508-856-1638
John.sullivan at umassmed.edu<mailto:John.sullivan at umassmed.edu>

From: CIS-PIDD CIS <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Tuesday, May 10, 2016 at 11:06 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: RE: [cis-pidd] 12yo boy with Hodgkins and ADA deficiency

Thank you.  Who sent this?  JC

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Tuesday, May 10, 2016 8:01 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] 12yo boy with Hodgkins and ADA deficiency

Joe, several patients with ADA deficiency have had EBV transformed cell lines established. Here is one reference:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC370370/<https://urldefense.proofpoint.com/v2/url?u=http-3A__www.ncbi.nlm.nih.gov_pmc_articles_PMC370370_&d=CwMFAg&c=Zoipt4Nmcnjorr_6TBHi1A&r=mERX_I8PKb0Uil9coedoT1CtvFqkSey45L0vbcX0oKI&m=9BmXIFxVmX50S9W1zuK4GYWe5FaW-po-X144_twpxc0&s=I5wtIH68bWhXtoeEUqqe43G-U40-pniHduxmcHihKGQ&e=>

From: CIS-PIDD CIS <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Tuesday, May 10, 2016 at 10:19 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] 12yo boy with Hodgkins and ADA deficiency

Colleagues:

About 18 months ago we consulted on an 11year-old boy with chronic lung disease, failure to thrive and a neck mass.  He had IgG=473, 46 B-cells, and 225 CD4+ T-cells with very poor antibody responses to routine immunizations and low mitogen and antigen responses on LPA.  The neck mass was EBV+ Hodgkin lymphoma.  He was treated for this, had a good response, and appears to be in remission.  The parents are from a small town in Mexico and are “distant cousins.”  Microarray demonstrated multiple long contiguous stretches of homozygosity.  Exome sequencing showed a homozygous mutation (p.L107P) in ADA.

Given his chronic lung disease/bronchiectasis, do we run the risk of an IRIS-like response in his lungs or elsewhere if we give him PEG-ADA?

How could his B-cells support infection with EBV and transformation to Hodgkin lymphoma in the face of ADA deficiency?  Spontaneous reversion in the tumor?

Your thoughts/experiences are welcome.

Joe Church
Children’s Hospital Los Angeles

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