[CIS PIDD] [cis-pidd] NEMO and BID

Thu Apr 30 05:55:52 EDT 2015

Dear all, I'd appreciate your inputs on a new case we have. He's a 15 yo boy who was followed by our gastroenterologists due to inflammatory bowel disease (diagnosis was made at 13 years of age due to arthritis and diarrhoea) that was unresponsive to steroids and azathioprine. Then, infliximab was started and PID screening was performed yielding a mutation in the X-linked NEMO gene both mother and sister are carriers of the mutation). My questions are: 
- Do you have any experience in NEMo deficiency patients presenting only with Crohn-like phenotype? 
- I'm worried about the risk of mycobacteriosis in a patient with NEMO-def receiving infliximab. Would you consider any other therapeutic option? 
- The patient is doing clinically well, should SCT be considered in this case? 

Thanks in advance and best regards from Barcelona, 

P. 

Pere Soler Palacín, MD, PhD. 
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'He bron     
Assistant Professor. Universitat Autònoma de  Barcelona (UAB)                                                        
Pg. de la Vall d'Hebron, 119-129 
08035 Barcelona. Spain. 
Tel. 0034934893140  /   Fax 0034934893039 

psoler at vhebron.net  /   34660psp at comb.cat 
Web: www.upiip.com 
ORCID ID: http://orcid.org/0000-0002-0346-5570 
Scopus Author ID: http://www.scopus.com/authid/detail.url?authorId=55923378300 
ResearchGate: http://www.researchgate.net/profile/Pere_Soler-Palacin 
Linked In : http://es.linkedin.com/pub/pere-soler-palac%C3%ADn/73/918/b16 

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