NEMO: A RARE PRIMARY IMMUNE DEFICIENCY DISEASE

“Jacob, go shower we have to do your infusion.” I hear my mom say that once a week. My brother has to take medicine every day twice a day. He needs the infusion to fight off infections.  He has a life threatening gene mutation called NEMO. NEMO is  IKKgamma or IKBKG gene mutation. It is classified as Primary immune Disease Disorder(PIDD), which is 1 of 200 possible diseases or disorders

NEMO is a mutation in the phenotype of the immune system. This mutation makes it so your blood cannot fight off illnesses. NEMO only affect boys and 36% of the boys have died at 6.4 years old. MY brother is living with NEMO; he is 12 years old. My parents replace his immune system once a week with antibodies that are extracted from plasma. NEMO Hypomorphs define specific diseases and Genetic Characterizations. This Amorphic NEMO mutations is lethal to males, but Hypomorphic mutations can, and a high percentage do, result in Ectodermal Dysplasia and immunological deficiencies.  DNA

NEMO is a mutation in the gene of an X-chromosome or males. NEMO is very rare 1 in 250,000 males get it, that is your chance of winning the lottery. Kids who suffer from NEMO develop bacterial infections leading them to an increased susceptibility mycrobacterial infections later in life, which tends to be very short. The chance to survive NEMO is about 50% and that is with a bone-marrow transplant that was successful.  When a match is not found for a bone marrow transplant, the either you will die waiting for one or you find a different option. Dr. Orange proposed a process to help NEMO kids get the bone marrow they needed without a match, making their own. The process is called in-vitro fertilization or IVF, but 1 in 4 siblings will be a perfect match. Pre-implementation genetic diagnosis or PGD is a process of creating a baby without NEMO by taking it out of the umbilical core blood. It is a medical miracle that can cure NEMO.

The NEMO gene is also called the IKBKG gene. The gene name is IKK-NSD Essential Modifier. The mutation is a frame-shift mutation and is, more specifically, a deletion mutation. Most males get diagnosed with ectodermal dysplasia first because all the symptoms or signs are there. They then have immunological problems and are very susceptible to infections. To test DNA samples must be taken and examined to see if there is a mutation in the NEMO gene. NEMO was considered a male-lethal disease but now there are mutations that can occur with in NEMO causing atypical forms of NEMO. Many males have been misdiagnosed with different diseases or disorders.

To live with NEMO my brother has to take medicine twice a day and have an immune system replacement infusion. The infusion comes from antibodies which were taken out of the plasma, which people donate. My brother can still be a “normal” kid but he has to do some things differently. When he got his first infusion it was like “liquid gold.” His first infusion was explained to him that the anti bodies were fire-engines putting out the fires in his body. The infusions are called SCIG or Sub Q immunoglobins. When he plays sports or is outside we have to be careful he doesn’t overheat because he doesn’t sweat, which is also another symptom, so he has to regulate his temperature to maintain homeostasis.

My brother seems to have what a “normal” life would be. He plays basketball, snowboards and hangs out with his friends, he is also very smart and is a good student. He has what is nicknamed “The Boy in the Bubble” disease, but it is actually a gene mutation. He was very sick as a child and was in and out of the hospital. My parents and my brother went from doctor to doctor to figure out what it was. My parents started infusing my brother with SCIG or Sub Q Immunoglobins in 2005, he was 3, he was diagnosed with Primary Immune Deficiency Disease (PIDD). How it was explained to me was a broken immune system.  The infusions made him feel instantly better. My Mom says that they were “Liquid Gold.” He is now 12 and living with a gene mutation that compromises his immune system.

NEMO is a gene mutation. This gene mutation is only in males, but females carry it. NEMO can be controlled. My brother has NEMO and controls it with infusions and medicine.  All my brother wants is to be normal, yes he has a gene mutation but he can control it. Research is being done to see what can be done to help these males with this NEMO mutation.

Further Reading Questions

  1. What is the NEMO (IKBKG) Gene and what does it Regulate?
  1. What are some treatment options, and what research is being done to cure the NEMO Mutation?
  1. What is a way other than medication can regulate the NEMO Mutation?
  1. What are some possible complications with having this mutation?

 

3 thoughts on “NEMO: A RARE PRIMARY IMMUNE DEFICIENCY DISEASE

  1. Also, I’m typing from a phone so please excuse any typos. If you find any new information, cures or findings Post them so I can pass them on to my family members. Unfortunately, for such a HUGE DISEASE there are very few educated people in this field. We need to get the word out to the rest of the world. There is a cure for NEMO out there somewhere, we just have to find it (or find the brilliant doctor/s whose going to invent the CURE). Thank you again.

  2. Unfortunately, this article is not 100 percent correct.( As of 2 years ago). Both if my cousins, ages 2 and 4 years of age are females and both have NEMO. The 4 year old has the one in a million bad gene that the males carry and is in the hospital fighting for her life as I text this comment. The parents of these children were told the girls would just be carrier’s of NEMO by the NEMO Doctors who worked on the brothers of these girls (3 boys who passed away from NEMO). This DISEASE needs MORE brilliant Doctors and researchers on its tail because I believe it’s the reason for a lot more deaths than we know. But thank you for your article and good luck. You are very blessed!

  3. Nice job!! I am going to have my son read this blog. His brother has memo and it might be good for him to know that their are other brothers that are concerned about their sick brothers health.

Leave a Reply

Your email address will not be published. Required fields are marked *