Is it NEMO, is it not?

The more I think about my case, the more I wonder if it is NEMO or not…

Begin forwarded message:

From: Teddy
Date: October 13, 2012 12:55:48 AM EDT
To: RG
Cc: Alison
Subject: Re: NEMO results.

There is a lot about NEMO that is definitely similar to our case, especially the skin infections and things like that–

I never studied genetics, but if my father has it, then isn’t it that he got it from his mother? Isn’t it not possible for my parental grandfather to give my father NEMO, since it’s on the X chromosome?

I agree exploring NEMO is definitely worth, especially considering our tendency to not have elevated WBC with the infections, and *definitely* because David is worse than I am. I’ve said since the beginning, that I sensed David has what I have, it’s just that he has it worse (for example, I also had many sinus infections growing up, but David has so many he has to be on daily antibiotics).

That’s also why I worry about David’s long term future too–I think he’s going to encounter even more life threatening infections more intensely even younger.

Hopefully, I’ll be shipping my father’s saliva on Monday…I will definitely let you know when it’s in the mail.

Thanks again for your thought.


(The doctor I’ve seen while I’ve been in Canada, Dr. Kyrillos, said he thought it was very significant that I has C-Diff then had enterococcus bacteremia in November 2005, because enterococcus normally doesn’t grow in the blood. He thought that was a telling event in my history.)

On Oct 13, 2012, at 12:28 AM, RG wrote:

Hi Teddy – The reason why we think NEMO is a good candidate is there are known cases of this mutation being associated with incontinentia pigmenti. We think some of the tick bits, or animal bites documented in David and your medical records are actually skin lesions because of this. Because it wasn’t known, it was assumed to be some sort of an insect bite. Colon cancer is absolutely also related because NEMO is part of the pathway that tells your white blood cells to attack cancer cells. Digestive problems, fighting infections, etc can all different phenotypes of this mutation. You may not be at severe as David because you are heterozygote, and since NEMO is on the X chromosome, its possible you partially express the faulty version in some cells, but not others. David on the other hand, only has the mutation and no normal version, or so we think. Our follow up sequencing will tell us for sure. The symptoms may be varied and can have everything do to with environment, life style, etc. Also the antibiotics can also be attributed to digestive problems as well. However, because of the location of the mutation, its a very likely candidate that follow up tests will be able to tell us. We are going to have another meeting in a week or two to discuss next steps over here about this. I still need to do some digging.

It is possible there is another disease of some sort. This raises an interesting question that we need to go back to David, Luke, and your data and sift through it more carefully being sure to examine the data that looks questionable. At first pass, this mutation didn’t even make our list. It wasn’t until you pointed it out that I checked. Having your mothers and fathers DNA will help because we can eliminate anything we find in your mother. Mutations that you, David, and your father share will help narrow it down. I feel pretty good that we will find NEMO in your father, but not your mother. If your father’s father had it, he would have passed it down to your father who passed it down to you.

Since it is this good of a candidate, we are going to continue down this route to either rule it out or show in the lab that this is in fact the cause. In anything else does come up, we do have the data and can continue looking elsewhere, but right now, we all think this is the likely cause.

I’m curious – who thought to sequence NEMO specifically and why did they request it? Did they ever follow up with you about it?


On Fri, Oct 12, 2012 at 8:28 PM, Teddy wrote:


This sounds great…the only problem with NEMO, is that it was my father’s father who was sick, and my grandfather’s brother died at 17 of pneomonia, further giving evidence to a possible immune deficiency from that side.

My paternal grandmother’s mother did have leukemia, possibly then having a NEMO mutation which she gave to my grandmother who gave it to my father.

My paternal grandfather died of 47 of colon cancer after having health problems most of his life. His mother died in her late 40s of a heart attack.

Digestive problems, heart problems (including high cholesterol) problems fighting infections, I definitely inherited from my father’s side.

Interestingly though, I have a half sister on my mother’s side who had problems with bacteremia this summer while on a trip to Peru and she’s also had a history of strep that (she’s 14 now), but she said she hasn’t had strep throat in a few years now.

My mother is healthy, and her parents were perfectly healthy. I do remember my grandmother having some brown spots on her skin (which Dr. Eric Hanson asked if I had this summer). Other than cancer in her 50s, which she successfully recovered, she’s been fine since. But she’s also extremely wealthy, so her lifestyle has been fairly easy.

Due to my paternal grandfather, father and my uncle, and then to me, I don’t think it’s NEMO. Maybe we have mild NEMO in addition to another immune deficiency (is that possible?)

About hopeforanswers

Some kind of rare immune deficiency, yet to be determined. A lifetime of infections without an elevated white cell blood or fever. Very grateful to be alive, very thankful for the friends who’ve supported me and for access to literally millions of dollars worth of medical care. I’m not the bubble child, I’m somewhere in between.
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