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

[Prof. Dr. Stephan Ehl]

Capucine picard is currently collecting the international experience on this and should have the best overview. Best wishes, St.

Beste Grüße

Prof. Dr. Stephan Ehl
Medizinischer Direktor

UNIVERSITÄTSKLINIKUM FREIBURG
CCI - Center for Chronic Immunodeficiency

Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
phone: +49(0)761.270-77300
Sekretariat +49(0)761.270-77550  fax +49(0)761.270-77600
e-mail: stephan.ehl at uniklinik-freiburg.de<mailto:stephan.ehl at uniklinik-freiburg.de>

Von: Pere Soler Palacin <psoler at vhebron.net<mailto:psoler at vhebron.net>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Donnerstag, 30. April 2015 11:55
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Cc: Oscar Segarra Canton <osegarra at vhebron.net<mailto:osegarra at vhebron.net>>
Betreff: [cis-pidd] NEMO and BID

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'Hebron
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<mailto:psoler at vhebron.net>  /  34660psp at comb.cat<mailto:34660psp at comb.cat>
Web: www.upiip.com<http://www.upiip.com/>
ORCIDID: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
LinkedIn: http://es.linkedin.com/pub/pere-soler-palac%C3%ADn/73/918/b16


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