[CIS PIDD] [cis-pidd] VS: Pulmonary cysts in STAT3 GOF patient

[CIS-PIDD]

Hi Rachel,

no we have not.

However, pulmonary hypertension could be caused by clonally expanded CD8+ CTL  LGLs, which attack the pulmonary endothelium?? STAT3 GOF could thus be like you suggest germline and a secondary LGL expansion (or even a large somatic clone alone)? At his age, LGL leukemia is often hard to catch, does he also have hepatomegaly --> liver biopsy?

Mikko

Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Lähetetty: 10. maaliskuuta 2016 0:14
Vastaanottaja: CIS-PIDD
Aihe: [MARKETING][cis-pidd] Pulmonary cysts in STAT3 GOF patient

We are evaluating a 10yo boy with a history of splenomegaly, thrombocytopenia, pulmonary hypertension (identified after recurrent syncopal episodes) with nodular and cystic lung lesions. Genetic evaluation shows likely STAT3 GOF (functional testing is ongoing). The lung lesions are quite unusual - located around the periphery (apex and anterior regions most affected), and along the fissures (see images in Dropbox folder). The central regions are spared. In our experience, single layer peripheral pulmonary cysts are sometimes seen in SAVI and ADA SCID. We are wondering if others have observed similar lung lesions in any other immunologic conditions?

https://www.dropbox.com/sh/sxy66k9ek6apful/AADOqHDodi3nfDEec9R0N6t8a?dl=0

Thanks,
Rachel Sparks
A/I Clinical Fellow, NIH

---

You are currently subscribed to cis-pidd as: mikko.seppanen at hus.fi<mailto:mikko.seppanen at hus.fi>.

To unsubscribe click here: http://cts.dundee.net/u?id=99266512.00d254228cd4b291924022bf56fac1f0&n=T&l=cis-pidd&o=3517999

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3517999-99266512.00d254228cd4b291924022bf56fac1f0 at lyris.dundee.net<mailto:leave-3517999-99266512.00d254228cd4b291924022bf56fac1f0 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=3524929
or send a blank email to leave-3524929-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160314/2a8e2adf/attachment-0001.html>