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

[Jack Bleesing]

If only internet searches was an olympic sport! I could be the Michael Phelps (on a 1500 calorie diet).

JB


>>> "Fleisher, Thomas (NIH/CC/DLM) [E]" <TFleishe at cc.nih.gov> 9/4/2008 9:08:32 AM >>>

Great site

Thomas A. Fleisher, M.D.
Chief, Department of Laboratory Medicine
NIH Clinical Center
tel 301 496-5668
fax 301 402-1612
email tfleishe at mail.nih.gov 

-----Original Message-----
From: Jack Bleesing [mailto:Jack.Bleesing at cchmc.org] 
Sent: Thursday, September 04, 2008 8:29 AM
To: pagid at list.clinimmsoc.org 
Cc: Paul Gray
Subject: Re: [PAGID] Seeking help with what appears to be anautosomal
dominant inflammatory disorder

Check out this website:

http://fmf.igh.cnrs.fr/ISSAID/infevers 

Regards,

JB

------------------------------------------------------------------------
---
Jack J.H. Bleesing, M.D., Ph.D.
Associate Professor of Pediatrics
Cincinnati Children's Hospital Medical Center
Division of Hematology/Oncology
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)
Jack.Bleesing at CCHMC.org 
http://www.cincinnatichildrens.org/immunodeficiencies/ 



>>> "John Ziegler" <j.ziegler at unsw.edu.au> 9/3/2008 8:44:25 PM >>>

-

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