[PAGID] Patient question

[Conley, Mary-Ellen]

Hi Chris,
I think it might help to have a little more information about the patient.  A significant proportion of the patients with Pierre-Robin sequence have abnormalities of chromosome 22q11.  Do you know if this has been evaluated?  How is her growth and development?  Is she active?  What are the immunologic findings that support the diagnosis of CVID (serum immunoglobulins; lymphocyte cell surface markers; signs of autoimmune disease etc)? 

I am not sure that I would discard infectious etiologies just yet.

Mary Ellen




Mary Ellen Conley, MD
Department of Immunology
St. Jude Children's Research Hospital
332 N. Lauderdale
Memphis, TN 38105-2794
FAX  901-495-3977
TEL  901-495-2576


-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Chris Seroogy
Sent: Thursday, June 21, 2007 6:58 AM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] Patient question

Dear Colleagues,

I have a rheumatologic question on a very complicated CVID patient and am hoping some of you have faced this management challenge before.  This is a 13y/o female with long-standing brittle type I DM, CVID (mostly functional antibody production problems and IgA deficient), Pierre-Robin sequence, and multiple drug allergies.  She presented to my clinic for second opinion re:
CVID management last Fall and at that time I noted significant arthritis is several large joints and synovitis was confirmed by MRI and several bony erosions were seen on plain xray.  Since this time, I have been treating her arthritis (seronegative) aggressively with poor response.  She is on MTX and humira, low dose daily prednisone.  She did not respond to Enbrel for 12 weeks, hence was switched to humira.  She receives IVIG every 3 weeks (she has problems with recurrent sinusitis.) Despite this management, she has had significant progression of her arthritis now involving most joints and daily pain.  I am not sure where to go next (thoughts are anakinra, bolus steroids--although challenging with her DM.)  She was seen by our ID group and her clinical picture/findings were not felt to be secondary to an infection.  She also had a negative bone scan.  I welcome any thoughts.
Regards, Chris


Chris Seroogy, M.D.

Assistant Professor

Dept. of Pediatrics

Mail:  H4/474 CSC, Mailstop 4108

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Madison, WI  53792

phone: 608- 263-2652

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