[CIS PIDD] [cis-pidd] STAT3 GOF and CNS disease

[CIS-PIDD]

Dear all,
I would like to ask you for guidance for a 6yo male with recently confirmed STAT3 GOF (ALPS-like phenotype without arthritis, under ruxo 10mg bid since one week ago). Brain MRI one year ago: normal. On routine examination for strabismus (three days ago) he had papilledema. He has new CNS involvement (billateral non-enhancing lessions in white matter without restriction). LP 10 leukocytes other results normal (limited volume as opening pressure was 36cmH2O) all of them are lymphocytes with normal appearance and T,B,NK cells are present (IgH and TCR rearrangement pending).Viral tests PCR for CMV, HSV1, HSV2, HHV6, VVZ, EBV negative. Negative PCR for cryptococcus. Baseline blood PCR negative for BK&JC (he is under acyclovir prophylaxis).

I wonder if your patients are particularly prone to CNS vasculitis or infections besides what has been reported.
Any input is welcomed.
All the best
Nacho 

Luis I. Gonzalez-Granado. MD.
Immunodeficiencies Unit. 
Hospital 12 de octubre.
Research Institute Hospital 12 octubre (i+12)   
Av. Cordoba S/N. 28041. Madrid. Spain
Tel. 0034606732959 /  0034913908569  /  Fax 0034913908772
luisignacio.gonzalez at salud.madrid.org
ORCID ID:  orcid.org/0000-0001-6917-8980
Researcher ID: B-9257-2009
ResearchGate:https://www.researchgate.net/profile/Luis_Gonzalez-Granado 
LinkedIn:  https://es.linkedin.com/in/nachgonzalez
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