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

[Dylan Mordaunt]

I would try and prioritise filtering of the Infevers genes on your exome-
fmf.igh.cnrs.fr/ISSAID/infevers/.

The dyserythropoietic anemia is curious, were there sideroblasts or
vacuolation? Were urine organic acids normal? Some UOA methods will not
necessarily pick raised mevalonate on UOA- it might be worth clarifying
with the lab; decreased cholesterol and 7-DHC/sterols can be a clue for
MVK. Which genes did you cover in the panel and was it just sequencing or
did it include del/dup?

Kind regards,
Dylan

Dylan Mordaunt
Clinical and Metabolic Genetics Fellow
South Australian Clinical Genetics Service
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com

On 21 November 2014 09:38, Dr. Carsten Speckmann <
carsten.speckmann at uniklinik-freiburg.de> wrote:

> 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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