[PAGID] Hyper IgD Experience?

[raas0027 at umn.edu]

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