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

Tue May 15 11:12:38 EDT 2018

Thanks Jen and Karl for your input, we'll check toxoplasma and
cysticercosis by PCR in CSF.
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. *0034**606732959 / * 0034913908569  /  Fax 0034913908772
<0034934893039>luisignacio.gonzalez at salud.madrid.org
<luisignacio.hdoc at salud.madrid.org>ORCID ID:  orcid.org/0000-0001-6917-8980
Researcher ID: B-9257-2009ResearchGate:
https://www.researchgate.net/profile/Luis_Gonzalez-Granado LinkedIn:
https://es.linkedin.com/in/nachgonzalez

2018-05-14 18:43 GMT+02:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:

>
>
> Hi, Dr. Gonzalez:
>
>
>
> I'm a little confused with the view on MRI -- it appears that there is a
> large anterior lesion on the L, but it involves the rest of the "roof" of
> both ventricles.  I'm not a neuroradiologist  ... but if this is the case
> (multiple lesions, periventricular), then neurotoxoplasmosis and
> neurocysticercosis are worth a consideration.  The elevated opening
> pressure will also be consistent with the former.
>
>
>
> Good luck with the case.
>
>   - Karl
>
> Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
> Scientist II and Assistant Director, Center for Infectious Diseases and
> Immunology
> RGH Research Institute | Rochester General Hospital | Rochester Regional
> Health
> 1425 Portland Ave., Rochester, NY
> <https://maps.google.com/?q=1425+Portland+Ave.,+Rochester,+NY+14621&entry=gmail&source=g>
> 14621
> <https://maps.google.com/?q=1425+Portland+Ave.,+Rochester,+NY+14621&entry=gmail&source=g>
>
> Tel  585-922-3709  |  Fax  585-922-2415
>
> ------------------------------
> *From:* cis-pidd at lyris.dundee.net [cis-pidd at lyris.dundee.net] on behalf
> of CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
> *Sent:* Monday, May 14, 2018 9:13 AM
> *To:* CIS-PIDD
> *Cc:* Lisa Forbes
> *Subject:* Re: [cis-pidd] STAT3 GOF and CNS disease
>
> 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 on behalf of CIS-PIDD" <
> cis-pidd at lyris.dundee.net on behalf of 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
> ORCID ID:  orcid.org/0000-0001-6917-8980
> Researcher ID: B-9257-2009
> ResearchGate:https://www.researchgate.net/profile/Luis_Gonzalez-Granado
> <https://urldefense.proofpoint.com/v2/url?u=https-3A__www.researchgate.net_profile_Luis-5FGonzalez-2DGranado&d=DwMGaQ&c=ZcS_IThVDLRgSnibLQVJ9vwqRPpc3RkFqvJL1VfvJu0&r=SS5WX_zJKFGQt9gnWxXM2zj3mGuaCrOGfogIF4rsPm06T2ggGCIyqTpu8I8GvD7y&m=JrzAtpyVW08gLBvjuPVecObBdH1GmnB3WFMdVGA7uJg&s=vixCGN_UsUIRRX64T_d6nkDc9ncVR12Jpe3RlXr-ZL0&e=>
> LinkedIn:  https://es.linkedin.com/in/nachgonzalez
>
>
> *Rochester Regional Health Email Disclaimer*
> This email and any files transmitted with it are confidential and intended
> solely for the use of the individual or entity to whom they are addressed.
> If you have received this email in error please delete it from your system.
> This footnote also confirms that this email message has been swept for the
> presence of computer viruses.
>
> ---
>
> You are currently subscribed to cis-pidd as: nachgonzalez at gmail.com.
>
> To unsubscribe click here: http://cts.dundee.net/u?id=96396812.
> 66aedac07f1044b5f6e7c94e3e51e2ac&n=T&l=cis-pidd&o=4901908
>
> (It may be necessary to cut and paste the above URL if the line is broken)
>
> or send a blank email to leave-4901908-96396812.
> 66aedac07f1044b5f6e7c94e3e51e2ac at lyris.dundee.net
>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4903740
or send a blank email to leave-4903740-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20180515/806f63c6/attachment-0001.html>