[CIS PIDD] [cis-pidd] CAEBV

Mon May 22 16:48:38 EDT 2017

Thanks Ivan!  We ended up running the Immunoplex Panel from U of Washington.  We did look at CTLA4, but not PIK3CD.....  appreciate the great idea.

Dave

________________________________
From: cis-pidd at lyris.dundee.net <cis-pidd at lyris.dundee.net> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Sent: Monday, May 22, 2017 11:34 AM
To: CIS-PIDD
Subject: RE: [cis-pidd] CAEBV

Hi David,

May I ask which specific genes have been sequenced?  Does your list include CTLA4 and PIK3CD, for example?

Ivan Chinn, M.D.

Division of Immunology, Allergy, and Rheumatology

Department of Pediatrics

Texas Children’s Hospital

Baylor College of Medicine

From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Monday, May 22, 2017 12:43 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] CAEBV

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Dear Colleagues,

I posted a bit ago about a 16 yo male who presented with 3 months fever, cough, weight loss, night sweats,
massive hepatosplenomegaly, cytopenias (mild neutropenia, mild anemia, and moderate thrombocytopenia.  No monocytopenia.  Some hypocellularity and hemophagocytosis.  Fibrinogen low in 60s, now 90s.  Ferritin 3500.  Triglycerides normal. His EBV PCR is persistently elevated (at that time up to around 333,000 copies).  He also had a BAL with EBV isolated by PCR.  No EBV IgM but + EBV IgG VCA and NA.  Immunoglobulins - IgG elevated 1,600 and IgE elevated at 556.   IgM and IgA are normal.  Vaccine responses were lousy.   CD3 was low at 331,  CD4 203, CD8 126. B cells low at 57. NK cells high at 1205.   NK function was normal.  sIL2R was high.  Mitogens fine.  Additional flow based studies for SAP, XIAP, perforin staining --  all negative , etc.  Gene panels for SCID variants, familial forms of HLH, etc -- all negative.  Family hx of a distant male cousin with 3 cancers in 20s, alive (one skin cancer and remainder unknown) but otherwise no males with significant issues (though mostly girls in family).   He disappeared for a bit and was treated by an oncology team with rituximab which helped.  His EBV PCRs dropped.  His platelets got better.  He had a transaminitis that improved.  His organomegaly improved slightly.  His sIL2R normalized, etc.

He is now 17 years old.  He just came to see me because he has low platelets, mod. transaminitis, organomegaly still present, and EBV PCR levels around 2 million copies from his peripheral blood.  His last rituximab dose was in July 2016.  I just sent off a lymphocyte immunophenotyping to see if he has any B cells left.  I am also going to grab a liver biopsy and some clonality studies on his T cells, etc.  I also requested some analysis on his previous marrow exam to look at which cells the EBV is in.  I also requested HLA typing.   At this point he seems to be more of a CAEBV kid rather than a EBV associated HLH.  He is stable and not sick appearing.  If he has B cells...  I can give him some more rituximab to bridge to a unrelated donor transplant using a RIC approach.  If he has no B cells....  I was wondering if anyone would suggest any sort of bridging therapy prior to transplant as it will take a bit of time to secure a donor, etc.   Any comments / suggestions are welcome.

Thanks as always...

Dave Buchbinder

CHOC Children's Hospital

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