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

[Ashish Kumar]

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

>

>

>   

-------------- next part --------------
A non-text attachment was scrubbed...
Name: kumar036.vcf
Type: text/x-vcard
Size: 161 bytes
Desc: not available
Url : <http://seven.pairlist.net/mailman/private/pagid/attachments/20080903/7c867bba/attachment.vcf>