[CIS PIDD] [cis-pidd] Long-lasting recurrent fevers starting after EBV primoinfection

[CIS-PIDD]

Dear all,

I would like to share 2 male patients that have come to our clinic recently, aged 14 and 16, who both explain similar symptoms: after an uncomplicated EBV-primoinfection at ages 2 and 8, they started manifesting recurrent episodes (every 1-2 months) of fever (38ºC), lasting for 2-5 days, with no associated symptoms (except headache and myalgias), with confirmed elevated inflammatory parameters (CRP, ESR) (that return to normal values after fever resolves). Between the episodes of fever, both patients do reasonably well, but still refer arthalgias (without confirmed arthritis) and fatigue. No GI symptoms.
Physical exam is strictly normal (no splenomegaly, no lymphadenopathies).
Evaluated by rheumatologists: extended gene panel for autoinflammatory diseases performed by Dr. Arostegui shows no mutations.
Blood tests:
-Immune work-up including T/B(NK phenotype and subphenotypes within normal-for-age values. Normals immunoglobulins.
-Postive IgG-VCA to EBV. Negative IgM-VCA.
-Negative PCR to EBV.
-Genetic studies for XLP-1, XLP-2 show no mutations.

My questions would be:
1) at the diagnostic level, would you pursue genetic analysis? Which genes should be included in these genetic analysis (since I don’t have unlimited access to WES).
2) at the therapeutic level while confirming a genetic diagnosis, any suggestions?



Best regards,



Laia Alsina, MD, PhD

Attending at the Allergy and Clinical Immunology Department
Hospital Sant Joan de Déu, Barcelona
Immunology Unit, Hospital Sant Joan de Déu-Hospital Clínic.
ORCID ID: http://orcid.org/0000-0002-3559-0018







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