My four year old has just been diagnosed with hyper IgE in October. We have suspected she had an immune problem since she was about eighteen months old and she had many tests, but never any answers. In October, she became very ill and was hospitalized with meningitis. After about a week, they figured out that her infection was fungal, not bacterial or viral as they had thought. She was transferred by life flight to a larger hospital and it took a while to figure out exactly what type of fungal infection she had. She also suffered several seizures and three strokes due to the infection. Through all this, she was diagnosed with hyper IgE. She also developed encephalitis and hydrocephalus due to the infection and had two brain surgeries for that. She now has a permanant VP shunt and seems to be doing well with that. We are still in the hospital (going on two months) and she is doing therapy for the stroke damage. I have learned a lot about hyper IgE and have had some great drs, but still have some questions they have not answered. I wondered if anyone here had any answers. My daughter has the recessive form and I don't really know a lot about the differences between the two forms. Can anyone tell me more specifically about the recessive form? All they have told me so far it that it is more serious and that there are nuerological "issues", whatever that means. Also, does anyone know if the dental issues are part of the recessive form? So far, she has not had any troubles with her teeth, but she is only four. She has had excema since birth and frequent skin, ear and other infections, but nothing life threatening until now. She has never had any bone problems and did take one big fall with no broken bones. She tends to get very sick without "looking" sick or even running a fever. I am glad I have a name to put with this so that I can get drs to understand that she really is sick. When she goes home, she will be on fluconazole and bactrim. Hopefully, that will help. The strange thing is, since she has been in the hospital, her skin has looked better than it ever has since she was born. Has anyone else experienced that? Looking forward to hearing from some of you in the same boat. M's mommy

M's Mommy

Hello M's Mommy

My 15 year old son Sam has Job's Syndrome, obviously he's had it all his life but he didn't get that diagnosis until 2006. I won't bore with all the details here but if you want you can follow a discussion thread I've been having with Jack and I've outlined Sam's 'journey' there.

Hyper IgE Syndrome (HIES) (Job Syndrome) url: www.ipopi.org/forum/read/1/3430.html
[www.ipopi.org]

Must say I wasn't fully aware about the differences between the dominant and recessive forms of Job's Syndrome and I don't know which one Sam has - I'll ask at his next consultant's appointment in January. He hasn't had too much bother with his teeth, one or two baby teeth have remained but dental x-rays show the adult teeth all lined up to grow in; and once he had a double-row of a baby and adult tooth but our dentist just tweaked the baby one out!

It is interesting about the excema, Sam's skin has never looked better since he was diagnosed with Job's. I'm putting it down to the fact that his excema was always infected before simply because his body was unable to deal with bacteria like a normal individual could; and now that he takes regular antibiotics and antifungals, these drugs help with quashing the skin bacterias as well as helping keep his chest healthy - which is Sam's main problem.

I gather from your posting that you're still in hospital with your daughter and it sound's like that's not close to home. Can really sympathise with this situation, we spent six months with Sam in hospital in Glasgow 150 miles away from out home in Scotland. Luckily we had family and friends who happened to live near to the hospital so had plenty of support. But still we had to lock up our house and move into a hostel attached to the hospital, put my daughter into another school, send the dog to board with my brother in England and my husband took leave of absence for a while from work. All very disruptive and adds to the worry of having a poorly child too. Hope you've got lots of support.

Kind regards, Ax

M's Mommy,

Wow, it's so nice to meet so many people who share in my daughter's experiences. I've already meet Alice on another chat thread. It's nice to meet you, too, M's Mommy. My daughter just turned 8 years old on Thanksgiving day, and she was diagnosed with Hyper IgE Syndrome at 18 mos. (approx.) Asthma too. She too had VERY BAD excema from birth (literally) up until about the age of 4. She still has bad excema, don't get me wrong, but prior to the age of 4 it was down right HORRIBLE. Skin would stay infected, crack, ooze, bleed, was raw, peeled off her like a burn victim. It was BAD!! So bad that she was taken to a hospital out of our state for 2 weeks of intensive treatment. The main thing that corrected it at that time was the discovery of MULTIPLE major food allergies. I mean close to 30 foods. Let's see if I can remember them all...cow's milk, goat's milk, soy, wheat, gluten, barley, corn, tomato, white potato, sweet potato, green beans, cucumber, banana, kiwi, spinach, turkey, chicken, beef, pork, venison, shell fish, fresh and saltwater fish, egg, peanut, hmmm...okay so I can't remember them all off the top of my head, but it was approx. 30 foods. Some of the foods (about 4) I was already aware of because she had previous anaphalactic reactions (facial sweeling, wheezing, etc.) and I knew not to give it to her. The rest were surprises to me. I had no idea that most of the foods I was feeding her was causing her excema to flare up and make her itch like crazy. I simply thought that her excema was completely unrelated to her diet and just a separate issue that we were trying to deal with. Her gut (throat, stomach, intestines) were inflammed (had eosinophilic enteritis) as well (that explained all the "tummy pains" too) and so for about a year and a half she had a feeding tube surgically placed into her stomach and we had to tube feed her a special liquid diet. Nothing was allowed to enter her mouth except for water. This allowed her insides (and her outsides) time to heal. After that, we slowly re-introduced table foods, but only stuck to the foods she was allowed to have. And, as I'm sure you can guess, it wasn't much. She eats alot of buffalo meat, pure rice products, and some fruits and veggies. Her skin greatly improved. She still battles milder excema outbreaks, still needs her special creams everyday, but it's nothing compared to what her skin was like before. Now....like most parents of Hyper IgE children, I too wasn't having much luck finding doctors who could fully explain Hyper IgE to me. So I began to self-educate myself thanks to the good ol' internet. And, up until recently, I thought that Hyper IgE and Job's Syndrome were the same thing. IT'S NOT! Unless your child has a confirmed STAT3 gene mutation (which requires a DNA sampling to confirm), then your child doesn't have classical Job's Syndrome. Your child, in that case, would only have Hyper IgE Syndrome. There are some differences. My daughter and I just got back from NIH (National Institutes of Health) in Bethesda, MD about a week ago. We went there for my daughter to be a part of their Job Syndrome study. NIH has been studying Job's for 8 years. They are the ones who recently discovered the specific gene mutations responsible for Jobs', called STAT3. Here's what we learned while we were there.

*In addition to a highly elevated IgE count, true Job's patients have a mutated STAT3 gene. (This is the determining factor.)
*true Job's patients also have the following:
-scoliosis by age 16
-recurrent (and frequent) bone fractures
-fragile bones due to low bone density
-specific facial characteristics by age 16
-high pallet (roof of mouth)
-hyperextensible joints ("double-jointed") in almost all joints
-recurrent pneumonia (mostly baterical or fungal in nature)
-"holes" in their lungs due to the recurrent infections
-cysts in their lungs filled with "germs"
-problem with baby teeth not falling out on their own and almost always have to be pulled by a dentist. (this causes a temporary double row of teeth until the baby ones are pulled)
-excema
-recurrent skin staph infections or fungal infections
-thrush (yeast in mouth)
-recurrent episodes of large boils that sometimes need to be surgically drained.
-strokes (usually teenage years and older)

We also learned that in NIH's 8 years of studing this disease, they have not encountered a true Job's patient that also had multiple food allergies and the eosinphilic enteritis.

But, my daughter matches most of the criteria listed above for Job's (which is why she became part of their study), but not all of it.

Because we just got back, we don't have all of the test results back yet, but what NIH has told us so far is this. Based on the information that they gathered from us so far, they feel that my daughter will not have the STAT3 gene mutation when the results finally come in. But, they have met many children like my daughter. They call them "Job-Like". They are very interested in these children because they feel that these children will teach them the most. They encountered enough of them to realize that there must be some sort of significance to it. They said it could be one of three things:

#1) In some Hyper IgE cases, the child is simply highly allergic. Nothing more than that. The severe (and multiple) allergies cause asthma and excema. Sometimes severe. The chronic excema causes some skin infections simply because the skin is constantly broken and in a weak state. The child can also develop repeat pneumonia due to chronic asthma.
#2) There may be a new, undiscovered, yet-to-be-named disease out there that mimicks Job Syndome. It will be by studying these "Job-Like" patients that doctors and scientist can figure out what it is, put a name to it, and learn more about what causes it and how to treat it.
#3) There may be another strain of Job Syndrome that involves another gene besides the STAT3. The other strain may causes many of the similar symptoms as true Jobs, but not all. It may have some unique symptoms that Jobs does not (such as the eosinophilic enteritis and the multiple food allergies). Again, it will be by studying the "Job-Likes" that doctors and scientists can learn and search for the other gene involved (if this is the case) and undertand it more.

My daughter is due to return to their center in 2008 for more studying. Hopefully soon we will know something more definite.

Now, finally, to answer your question about dominant and recessive forms of Jobs, yes, there is a difference. NIH taught us about that too. The sporadic one does tend to have more problems than the inhereited one. To be honest, the sporadic one is more life-threatening. I can't remember the main differences, but I have a bunch of material on it. Let me look that up for you in the papers I was given by NIH and I will post another message on this board for you.

In the mean time, take care, and we'll be in touch.

D



Edited 1 time(s). Last edit at 02/10/2008 10:30PM by d_zeas.

My brother in law has just been diagnosed at age 3 with IgE, his skin also cleared up in the hospital, but they removed all polyester cloth from his clothes and bed and switched him to 100% cotton EVERYTHING and they gave him special potassium baths, which he called purple baths. This cleared him up, but they say the potassium is so toxic that the baths can not be given at home and in the hospital he had ear plugs, goggles, and a nose plug. I am not sure what your childs surroundings where but heres two factors that helped us, we have since learned that he is allergic to polyester. Also the doctors state that once Job is under control with antibiotics the toxins will not cause the skin irritation, eczema. So the condition of the skin is insight to the level of infection(at least in my understanding).
D

Hello D

It's a rocky road isn't it? Poor little chap, all this at only three.

My son Sam's excema is usually under control nowadays, probably due to the regular antibiotic/anti-fungal regime he's on. But occasionally he does has flare-ups and it's back to the inflamed, scabby, infected skin rashes again and sometimes the infection manifests itself as folliculitis. Excema usually in armpits, backs of elbows, backs of knees, etc. Then he has to take his top-up antibiotics, Co-Amoxiclav, to deal with the skin infection. In fact he's just finishing a course now to deal with a recent flare-up.

I see in another thread that you're interested in seeing the people in Bethesda, MD, and they seem to be the people who know about Job's Syndrome. Not being a US resident I'm not clear how the system works to get referred, but you could try visiting their website on [www.nih.gov] where there seems to be lots of information about clinical trials and such-like that your brother-in-law could try to get on - like jack2443's daughter above. Jack can you help here?

Ax

My 2 yr old son has Severe Asthma, Food& Seasonal Allergies , Eczema ,Mulluscoms Contagiosums , inflammation on his lungs and has MRSA for the 4 th time now , he had RSV, and double ear infections alot and had to get tubes in his ears, his IgE Level was 13,051 . We were sent to a Immunologist at MCV in Rich , Va and they were rude , and said that our son had to many Dr's and that I need to get rid of some of them , and that they could not say yes or no that he does or does not have Job's Syndrome. I hope all is well with your daughter is well now...
Lisa

It's actually quite easy to get in to NIH in Bethesda, MD. I called and in less than a month I was there. Here's a number you can call. (301) 402-0449. This is a number to a nurse at NIH that can spend a few minutes on the phone with you, asking you detailed questions about your child. She will then forward your information to the chief doctor in charge of the clinical trails for final approval. If your cihld fits most of the Job symptoms, then they will be interested in getting you there for evaluation. The more patients they have to study, the better their efforts are. They're helping you, and you're helping them. It's a win-win situation. They need as many candidates as possible in order to learn as much as they can about this disease, which in turn, helps our children. Now, once the nurse gets the final approval from the chief physician, then she will get you in contact with the fiancinal aid counselor who will take your information over the phone. No forms to worry about. The purpose of this financial aid is simply to cover your travels there and your hotel. The hospital/clinic itself (and all the medicine they prescribe) are totally 100% free. As a matter of fact, no one, at any point, will ever ask you about health insurance. Ever. If you qualify, then they will arrange for your travel and lodging. If you do not qualify then you will be responsible for getting yourself and your child there for the first visit. But all subsequent visits are paid for by the clinic. Very easy to get started. Simply call that number above. I hope this helps! Let me know how it goes. Good luck!

It's actually quite easy to get in to NIH in Bethesda, MD. I called and in less than a month I was there. Here's a number you can call. (301) 402-0449. This is a number to a nurse at NIH that can spend a few minutes on the phone with you, asking you detailed questions about your child. She will then forward your information to the chief doctor in charge of the clinical trails for final approval. If your cihld fits most of the Job symptoms, then they will be interested in getting you there for evaluation. The more patients they have to study, the better their efforts are. They're helping you, and you're helping them. It's a win-win situation. They need as many candidates as possible in order to learn as much as they can about this disease, which in turn, helps our children. Now, once the nurse gets the final approval from the chief physician, then she will get you in contact with the fiancinal aid counselor who will take your information over the phone. No forms to worry about. The purpose of this financial aid is simply to cover your travels there and your hotel. The hospital/clinic itself (and all the medicine they prescribe) are totally 100% free. As a matter of fact, no one, at any point, will ever ask you about health insurance. Ever. If you qualify, then they will arrange for your travel and lodging. If you do not qualify then you will be responsible for getting yourself and your child there for the first visit. But all subsequent visits are paid for by the clinic. Very easy to get started. Simply call that number above. I hope this helps! Let me know how it goes. Good luck!

It's actually quite easy to get in to NIH in Bethesda, MD. I called and in less than a month I was there. Here's a number you can call. (301) 402-0449. This is a number to a nurse at NIH that can spend a few minutes on the phone with you, asking you detailed questions about your child. She will then forward your information to the chief doctor in charge of the clinical trails for final approval. If your child fits most of the Job symptoms, then they will be interested in getting you there for evaluation. The more patients they have to study, the better their efforts are. They're helping you, and you're helping them. It's a win-win situation. They need as many candidates as possible in order to learn as much as they can about this disease, which in turn, helps our children. Now, once the nurse gets the final approval from the chief physician, then she will get you in contact with the financial aid counselor who will take your information over the phone. No forms to worry about. The purpose of this financial aid is simply to cover your travels there and your hotel. The hospital/clinic itself (and all the medicine they prescribe) are totally 100% free. As a matter of fact, no one, at any point, will ever ask you about health insurance. Ever. If you qualify, then they will arrange for your travel and lodging. If you do not qualify then you will be responsible for getting yourself and your child there for the first visit. But all subsequent visits are paid for by the clinic. Very easy to get started. Simply call that number above. I hope this helps! Let me know how it goes. Good luck!

It's actually quite easy to get in to NIH in Bethesda, MD. I called and in less than a month I was there. Here's a number you can call. (301) 402-0449. This is a number to a nurse at NIH that can spend a few minutes on the phone with you, asking you detailed questions about your child. She will then forward your information to the chief doctor in charge of the clinical trails for final approval. If your child fits most of the Job symptoms, then they will be interested in getting you there for evaluation. The more patients they have to study, the better their efforts are. They're helping you, and you're helping them. It's a win-win situation. They need as many candidates as possible in order to learn as much as they can about this disease, which in turn, helps our children. Now, once the nurse gets the final approval from the chief physician, then she will get you in contact with the financial aid counselor who will take your information over the phone. No forms to worry about. The purpose of this financial aid is simply to cover your travels there and your hotel. The hospital/clinic itself (and all the medicine they prescribe) are totally 100% free. As a matter of fact, no one, at any point, will ever ask you about health insurance. Ever. If you qualify, then they will arrange for your travel and lodging. If you do not qualify then you will be responsible for getting yourself and your child there for the first visit. But all subsequent visits are paid for by the clinic. Very easy to get started. Simply call that number above. I hope this helps! Let me know how it goes. Good luck!