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

[CIS-PIDD]

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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