[CIS PIDD] [cis-pidd] EBV associated PID

Tue May 24 15:06:19 EDT 2016

Thanks Mikko.  We are working on the XLP1/2 question and HLH.  We were
also thinking about the entities in the papers mentioned below.... ITK,
MAGT1, STK4.  So we will press forward.  Hopefully, I will have more
data to share with the group as it evolves.  It was a case that was "hot
off the press" and undoubtedly something interesting. 

Dave

>>> "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 5/24/2016 12:00 PM >>>

Hi Dave, 
my first thought is of course XIAP and smoldering HLH. 
Ddg is however very broad. There are 2 extensive recent reviews on the
subject:
Cohen JI Primary immunodeficiencies associated with EBV disease, 2015
Palendira U, Rickinson AB Primary immunodeficiencies and the control of
Epstein-Barr virus infection, 2015
which can be found from PubMed. They list a wide array of potential
genetic defects to be looked for and information on their typical
presentations (but patients may have atypical presentations, thus an
extensive list is needed).
ATB

Mikko

oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE), HUS
Mikko Seppänen, MD, PhD, Associate professor 
Specialist in Internal Medicine and Infectious Diseases
Head, Rare Disease Center, Helsinki University Hospital (HUH)
Children’s Hospital, P.O.Box 280
FI-00029 HUS
FINLAND
&
Senior Consultant (PIDD)
Adult Immunodeficiency Unit
Inflammation Center, HUH

Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
Lähetetty: 24. toukokuuta 2016 21:17
Vastaanottaja: CIS-PIDD <cis-pidd at lyris.dundee.net>
Aihe: Re:[cis-pidd] EBV associated PID

Dear Colleagues,

We have 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,
now 1000s.  Triglycerides normal. His EBV PCR is persistently elevated
(now 333,000) - one month ago it was in 45,000 range.  No EBV IgM but +
EBV IgG.  Immunoglobulins - IgG elevated 1,600 and IgE elevated at 556. 
 IgM and IgA are normal.  Vaccine responses are pending.  CD3 low at
331,  CD4 203, CD8 126. B cells low at 57. NK cells high at 1205.   NK
function is normal.  Mitogens are pending.  Additional flow based
studies for SAP, XIAP, perforin staining, etc. - are pending.  A gene
panel for SCID variants was also sent.  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).   We planning on treating with rituximab to assist
with EBV control with avoidance of dex and etoposide since he is
clinically stable.  HLA typing has also been requested.  Any thoughts
are welcome with respect to potential diagnostic considerations for
sequencing in the realm of combined immunodeficiency and / or therapy.

Thanks as always,

Dave

Dave Buchbinder, MD

CHOC Children's Hospital

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