[CIS PIDD] MVK gene sequencing or enzyme activity?

[Kirkpatrick, Charles]

In addition, Anne Simon and associates have described a form of hyper-IgD syndrome that does not have mutations in the gene for MVK.  See Simon A, et al.Ann Int Med 2001; 135:338-343. 

Chuck Kirkpatrick



-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Jason Raasch
Sent: Friday, June 01, 2012 4:24 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS PIDD] MVK gene sequencing or enzyme activity?

Dr. Boyce's comment duly noted. I've tried urinary mevalonate on two occasions (not with this patient) specifically during a febrile episode and no increase was detected.

Jason Raasch


Sent by telepathy


On Jun 1, 2012, at 17:11, "Boyce, Thomas G., M.D." <Boyce.Thomas at mayo.edu> wrote:


> But not sensitive enough to make dx. You need the gene. 

> 

> 

> 

> On Jun 1, 2012, at 5:02 PM, "Haines, Kathleen M.D." <KHaines at HackensackUMC.org> wrote:

> 

>> Labcorp does urinary mevalonate.  May be cheaper.

>> Kathleen A. Haines, MD

>> 

>> 

>> ----- Original Message -----

>> From: raas0027 at umn.edu [mailto:raas0027 at umn.edu]

>> Sent: Friday, June 01, 2012 04:55 PM

>> To: pagid at list.clinimmsoc.org <pagid at list.clinimmsoc.org>

>> Subject: [CIS PIDD] MVK gene sequencing or enzyme activity?

>> 

>> I have a 9 year-old boy whose history and lab findings are convincing of

>> "hyper IgD" (HIDS) syndrome (HIDS; OMIM 260920).

>> 

>> Is anyone aware of a lab/institution who would do MVK gene sequencing or

>> mevalonate kinase enzyme activity on a research basis?

>> 

>> Commercial labs in the U.S. do the sequencing but it would be

>> cost-prohibitive for the family (their insurance will only pay a fraction

>> of the lab charges).

>> 

>> Thanks for your advice.

>> 

>> Have a great weekend.

>> 

>> -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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