[PAGID] Hyper IgD Experience?

[Nancy Kingston]

Jason,
I have had great experience with GeneDX and two patients I sent for Hyper IGD and TRAPS w/u in the last month ($350 for one test) seemed very satisfied, although it took a little leg work on the parent/patient's part.  I believe it was covered by their insurance as well.
Nancy Wasserbauer, DO
Allergy and Asthma Center of NE Ohio
215 W Bowery Ste 4500
Akron, OH 44141

--- On Tue, 5/4/10, raas0027 at umn.edu <raas0027 at umn.edu> wrote:


From: raas0027 at umn.edu <raas0027 at umn.edu>
Subject: [PAGID] Hyper IgD Experience?
To: pagid at list.clinimmsoc.org
Date: Tuesday, May 4, 2010, 9:16 PM


Dear Colleagues,

Please consider this patient:

Eight YEAR old boy with fevers every 4 weeks; onset at age < 6 MONTHS OF AGE;
fevers lasting 4-6 days; prodrome of arthritis and myalgias (and often aphthous ulcers); leukocytosis and elevated ESR and CRP with fevers; elevated IgD of 26 mg/dL (reference 0-10 mg/dL, Mayo Clinical Laboratories); and European ancestry, no family history of recurrent fevers. Things such as JIA, SLE, occult infection, primary immune deficiency, etc have essentially been ruled out.

Hyper-IgD syndrome is probable. I have reviewed a fair amount of literature illustrating the caveats in presentation, diagnosis and treatment of the various auto-inflammatory syndromes BUT I AM HOPING FOR COMMENTS FROM YOUR OWN EXPERIENCE:

1. Any utility in measuring urinary mevaloniic acid during an attack (there is certainly debate about this, eg. van der Meer et al NEJM 12-31-2001 and commentary).  It would be interesting, but necessary?

2. Any experience with commercial gene sequencing (e.g. GeneDx) for this (these) disorders? Can be expensive but may help justify treatment?

3. What is your experience with infliximab/etanercept/adalimumab or anakinra?

Thank you for input for this case and to everyone for all the great 'chatter' on the PAGID listserve over the last week.

Regards,

Jason


-- Jason Raasch, MD

Midwest Immunology Clinic
15700 37th Ave N
Suite 110
Plymouth, MN 55446

(Phone) 763.577.0008
(FAX)   763.5770192



      
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