[CIS PIDD] [cis-pidd] STAT1 GOF unfrequent manifestation

[Rosenzweig, Sergio (NIH/CC/DLM) [E]]

Dear All,
I've been following a young guy with STAT1 GOF mutation for the last 4y (currently 26yo). He have had all the common (CMC, histoplasmosis, mycobacteria, virus –shingles x3-) as well as the uncommon (neutropenia, diabetes) manifestations described  to be associated with this disease. All these problems are under pretty good control, but on top of them and for the last 10+ years he has what our neurologists defined as bibrachial amyotrophic diplegia/Hirayama disease, a poorly understood slowly progressive motoneuron degenerative disease that is making his life  really miserable. No viruses, autoimmune or vascular defects were found in this this kid (CNS/CSF).
Does anybody have seen anything similar in STAT1 GOF (our pt was whole-exomed and nothing else was found)?
Thanks in advance for your help,
Sergio

Sergio D. Rosenzweig, MD, PhD
NIH

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=45951013
or send a blank email to leave-45951013-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org