[CIS PIDD] [cis-pidd] ALPS and viral infections

[Eleonora Gambineri]

Dear all,

do you have any experience with ALPS and viral infections?

I follow a 6 y/o boy with a FAS mutation (elevated DNT, positive biomarkers, impaired in vitro apoptosis), who presented at 3 years of age with mild splenomegaly and lymphoadenopathy. He was never on immunesuppression since adenopathy and splenomegaly got spontaneously better and he never had other clinical signs of autoimmunity. Last october he presented with acute anemia and mild leucopenia during fever. There were no signs of acute hemolysis (DCT negative, no other lab indices). CRP was raised. Bone marrow aspirate showed hypocellularity with signs of cell regeneration. He then recovered in 7-10 days. We concluded for a transient bone marrow hypoplasia probably secondary to unknown viral infection (CMV, EBV, HHV6, Parvovirus B19 all negative both serology and PCR). Since then he did well, with no infections at all. 
He then presented 3-4 days ago with high fever and yesterday he had seizures, he was irritable and disoriented. CBC is normal and CRP only slightly raised. Cerebrospinal fluid is predictive of viral encephalitis and PCRs are ongoing. He is responding well to dexamethasone and acyclovir. 
The only odd finding that I have noticed during the last year follow-up was an inverted CD4:CD8 ratio with lower CD4 in percentage (20-25%). Moreover his CD4 and CD8 absolute cell counts seemed to have progressively dropped to lower levels for age (CD4 600-700 and CD8 700-800), while CD3 are within limits and NK seem to progressively raise. Is it possible that DNT are somehow taking over? I haven’t tested DNT recently, but given the normal CD3 numbers and lower CD4/CD8 I assume they are increasing. He did last follow-up in our clinic few days before the onset of symptoms. He was perfectly well, but his CD4 were lower than usual (around 400/ul) an CD8/NK increased. I thought it could be related to MPR boost that he received one week before. 
Now I am not aware of defects in cellular immunity in ALPS or recurrent viral infections. However given all above, I wonder if any of you experienced similar cases. 

Any comments/suggestions are more than welcome.

Thanks in advance.

Best wishes

Eleonora

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Eleonora Gambineri, MD
Researcher/Assistant Professor

Department of "NEUROFARBA": Section of Child's Health
University of Florence 

Department of Haematology-Oncology: BMT Unit
Department of Fetal and Neonatal Medicine: Rare Diseases,
"Anna Meyer" Children's Hospital

Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662606(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it
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