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

[CIS-PIDD]

Hi Nacho,

Lisa Forbes, Tiphanie Vogel, I, and many others have put together a series of 102 STAT3-GOF patients and have just analyzed the data. Of the 102, 8 had brain disease-none were on ruxolitinib, and none had proven infection as the cause. They were however, on many forms of other immunosuppression (steroids, sirolimus, tacrolimus, etc). 4 patients had vascular lesions (I.e. Hemorrhagic stroke, vasculitis), 2 had cerebellar lesions without an etiology or more firm diagnosis, and 1 had pseudo tumor cerebri. Also in our jakinib treatment series, no patients developed brain lesions as a result of ruxolitinib, in the follow-up period of months-1.5 years, manuscript will hopefully be out very soon. However, we do know that there is an increased susceptibility to herpes viruses in patients with various disorders treated with ruxolitinib. With all of this put together, we would think that these symptoms are more related to the underlying disease, possibly vasculitis. However, infection must be ruled out. Then you may want to add more immunosuppression to the mix.

On another note, we would love to add your patient to our series. We will email you separately regarding this.

Best,
Jen Leiding


On 5/11/18, 1:08 PM, "cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> on behalf of CIS-PIDD" <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> on behalf of cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

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<mailto: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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