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

[CIS-PIDD]

Thanks for your response, Mikko. We don’t have any evidence right now that he has LGL leukemia, but perhaps it is hard to identify at this point, as you mentioned. His liver is not enlarged — but he is returning in 3 months and we have been discussing liver biopsy in our group (there are some differing opinions). We plan to monitor for LGL leukemia by flow. I'll let you know if things turn in that direction.

Thanks again!
Rachel
A/I fellow, NIH


From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Monday, March 14, 2016 at 4:01 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] VS: Pulmonary cysts in STAT3 GOF patient

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

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