[PAGID] IPEX like 7 month old

[Chris Seroogy]

Dear Ashish,

Do you have T cell functional studies on this patient (i.e. Mitogens)?

Chris


Chris Seroogy, M.D.

Assistant Professor

Dept. of Pediatrics

Mail:  H4/474 CSC, Mailstop 4108

Shipping:  H4/431 CSC, Mailstop 4108

600 Highland Ave.

Madison, WI  53792

phone: 608- 263-2652

fax: 608-265-0164




On 1/10/08 10:51 AM, "kumar036 at umn.edu" <kumar036 at umn.edu> wrote:


> Dear Friends,

> 

> I am looking for help with a 8 month boy who has severe eczema, failure to

> thrive and significant eosinophilia. His total white count is 25-30 with

> 25% eos, giving him an absolute eosinophil count of 7000. He has widespread

> eczema which on biopsy showed infiltration with eos and lymphocytes. Total

> B, T and NK numbers are in the normal range with a CD4 to 8 ratio of 6. IgG

> of 200, and IgE of 70. IgA and IgM are normal (31). He has had watery

> diarrhea since birth, weighs only 5 Kg (at 8 months), no diabetes or

> thyroid dysfunction. Given this picture, I suspected IPEX even though he

> has no endocrinopathy, but his FOXP3+ CD4s are normal in number.

> 

> Where do I go next with this picture? There is no positive family history.

> I am waiting maternal engraftmetn studies, in case this is SCID or Omenn

> with maternal engraftment. I also just found that his CH50 is 0, with

> normal C3 and C4 levels. I am going to repeat the CH50 and get C2 and C5

> levels. There are few papers from the 70s describing Leiner's disease with

> C5 deficiency that causes eczema and failure to thrive. His hair looks

> normal and he doesn't have any teeth yet. He does not look dysmorphic and

> hasn't had any infections besides a couple URIs.

> 

> Ashish Kumar

> University of Minnesota

> 

>