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

Tue May 24 14:17:23 EDT 2016

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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