/NEMO

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<I did review all of Jake's labs again and found that his memory B cellsare

low. Perforin and granzyme were listed as low with his abnormal NKcell

functions. He also has been noted to have low interferon gamma and

TNF alpha. >

definitely needs to have NEMO ruled out! The low memory cells, the low

P/G, IFN, TNF, these are all things affected by that gene and it's just a blood

test. Seeing Dr. Orange isn't a bad idea, he had a role in finding NEMO (why

couldn't the fish have had another name?). He diagnosed our friend Jack who was

on Discovery (cure4jack.org). And Dr. O was one of the docs who uncovered the

fact that NEMO isn't always associated with ED. I have tried emailing Dr. O and

he is unwilling to speak with me without Dr. Bleesing contacting him first, he

doesn't want to step on toes. Kind of wierd, but whatever. We had considered

going there to see him, but after we went to the NIH we don't feel the need,

especially since CCHMC and CHOP seem to work closely together.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & dopt=Abstra\

ctPlus & list_uids=15356572 & query_hl=1 & itool=pubmed_docsum

Out of curiosity, has ever had a mycobacterial infection? Conner has not,

which the NIH says is pretty much a miracle.

Do you have my phone number? You can call me anytime.

Take care,

Mom to Conner (12, NEMO Deficiency and

Hashimoto's disease, among other things),

Hayden (12, unknown immune deficiency, IBS and moderate hearing loss/aided),

Evan (12, unknown immune deficiency, asthma and mild hearing loss/unaided),

and Kelsey - (10, unknown immune deficiency and asthma)

Please visit us at www.caringbridge.org/in/connersmith