[CIS PIDD] [cis-pidd] Unusual inflammtory disease

[Dr. Carsten Speckmann]

I would suggest to review exome data also for dominant GOF mutation in NLRC4

http://www.ncbi.nlm.nih.gov/m/pubmed/25217960/

Regards, Carsten Speckmann
--
Sent from my phone - please excuse the brevity and possible typos

Dr. Carsten Speckmann
Funktionsoberarzt/Consultant Immunologist
Center for Chronic Immunodeficiency - CCI
and Center of Pediatrics
University of Freiburg
Germany
phone: +49 (0)761 270 43010
fax: +49 (0)761 270 45990
www.cci.uniklinik-freiburg.de

> Am 20.11.2014 um 23:19 schrieb Verbsky, James <jverbsky at mcw.edu>:
> 
> Hello all…we are stumped
>  
>  
> 6 month old AA boy presents with fevers, pseudoparalysis(wouldn’t move his legs) of lower extremities, serositis, high inflammatory markers, hypoalbuminemia.
>  
> Found to have bone lesions in legs(biopsy non specific not cancer), knee arthritis, and diffuse fascial fluid and edema in fascial planes throughout, pleural effusions and peritoneal  ascites. 
>  
> Also with diarrhea (first thought to be related to parecho virus but hasn’t improved).  Endoscopy showed predominantly acute inflammation in the duodenum with flattened villi as well as acute colitis.  Currently on TPN and cannot tolerate anything more than trophic feeds without dumping syndrome.  Several infectious workups done and negative (except for parecho virus). 
>  
> Also very anemic…at first thought to be inflammatory, but is transfusion dependent.  Marrow x2 showed few erythroid elements, lots of myeloid elements, no leukemia, possible dyserythropoiesis.  
>  
> Tried anakinra first…helped clinically with arthritis, moving better, and feeling better.  No effect on GI.  Did not cure inflammation
>  
> WBC range from 15-37K.  ESR >100  CRP  CRP 20-25mg/dL(0-1.0 normal), improved to 4 on anakinra but has stayed there since. 
>  
> IgG of 1460  IgA 89 IgE 873.  Normal C3/C4
>  
> Lymphocyte subsets were essentially normal, but for whatever reason several markers (CD3/TCR/CD20) showed poor staining on multiple occasions with normal controls.  Staining improved when PBMCs were used and washed (??? Not sure what that means, inhibitor?)
>  
> Normal lymphocyte subsets, normal CD11b/CD15/CD18 expression, DHR normal (preactivated), Foxp3 detectable, CD25 present,  TLR testing normal (to LPS), IL-10 suppression normal, responds to MDP (xIAP).
>  
> Was thinking Majeed syndrome, but fever syndrome testing normal except for VUS in pyrin (waiting for report).  Started prednisone last week without clear improvement.  Exome sent.(will check LRBA, CTLA4, STAT1, IL10)
>  
> Cant put a dyserythropoietic anemia together with bowel disease and acute inflammation.  Thinking autoimmune enteropathy (although pathology says this looks different, will rescope)
>  
> Thoughts?
>  
> James W. Verbsky M.D./Ph.D.
> Associate Professor of Pediatrics and Microbiology
> Medical College of Wisconsin
> Milwaukee, WI
> 414-266-6701
>  
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