[PAGID] Seeking help with what appears to be an autosomal dominant inflammatory disorder

[John Ziegler]

-

Yes, that's certainly worth pursuing. Can you point us to the lab. In
France, please? 

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Ashish Kumar
Sent: Thursday, 4 September 2008 12:21 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [PAGID] Seeking help with what appears to be an autosomal
dominant inflammatory disorder

Dear Prof Ziegler,

The patients you describe have features compatible with PAPA syndrome (OMIM
ID #604416). Sequencing of the implicated gene, PSTPIP1 is available in the
US (GeneDx) and  in France.**

Ashish Kumar, MD, PhD
Assistant Professor of Pediatrics
Division of Hematology/Oncology/Blood and Marrow Transplantation University
of Minnesota

Electronic messages can be misdirected or intercepted by unintended parties.
The University of Minnesota can not and does not guarantee the
confidentiality of messages sent over the Internet.  Messages sent to or
received from work e-mail accounts also may be monitored or viewed by your
employer. If you have received this communication in error, please notify
the sender immediately and delete the information.



John Ziegler wrote:

> -

>

> Dear Colleagues

>

> We have a 15 month old girl who has two episodes of osteomyelitis, 

> effecting humerus and radius/ulna.  Both episodes appeared to start in 

> the adjacent joint (elbow and wrist) where there was a purulent 

> effusion, before spreading to involve bone, were refractory to 

> antibiotics, no organisms were isolated despite multiple attempts, 

> histopathology showed only a minor plasma cell infiltrate on later 

> samples and immunodeficiency screen was negative.  Inflammatory 

> markers (ESR/ CRP) were moderately elevated during the course of the

disease.  She seemed to improve markedly with NSAIDs.

>

> Her mother also suffered 5-6 documented episodes of osteomyelitis 

> (often at a site near to a joint) with moderately raised inflammatory 

> markers, and multiple episodes of what was thought to be septic 

> arthritis with pus in the joint, but again with no organisms 

> identified and negative immunodeficiency screen. She had occasional 

> other infections including one buttock abscess, an episode of 

> pneumonia and several UTI's.  She has gone on to have a seronegative 

> arthritis in adult life with difficult scarring acne of onset in mid 30's.

>

> We wondered whether this is on the CRMO/SAPHO spectrum, but could find 

> little evidence for the existence of such an early onset autosomal

dominant

> phenomenon.         

>

> A/Prof. John B. Ziegler and Dr Paul Gray School of Women's & 

> Children's Health, University of NSW C/o Department of Immunology & 

> Infectious Diseases Sydney Children's Hospital High St., Randwick NSW 

> 2031 Australia

> T: (02) 93821515

> F: + 61 + 2 93821580

> E: j.ziegler at unsw.edu.au

>

>

>