[PAGID] IPEX like 7 month old

[kumar036 at umn.edu]

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