+Rahul Sharma Hello, I'm no giving away the mindmaps at the moment. In the future there will be alot more videos and then I will start giving away the presentations so that people can use them! Thanks for the idea! Have a nice day!
It is frustrating that the internet has pretty much nothing on this. I would like to know the life expectancy of such a thing. I was seeing my specialist since I was 13. I recently got a letter of medical necessity and currently on IGG subq HyQvia ramp up. The ICD code is both: 279.00 and 279.06 on www.cms.gov/ it shows both HYPOGAMMAGLOBULINEMIA UNSPECIFIED and COMMON VARIABLE IMMUNODEFICIENCY. "Patient suffers from an unusual immune deficiency affecting bother T and B cells. His mother died in her 40's from probably the same form affecting a mutation of the IL2R. Most IL2R mutations are fatal within 1-2 years of life. In this respect, the patients immune disorder was relatively mild. He developed however severe esophageal candida and CMV sepsis with colonic ulcerations. Lately, his profile deteriorated and bone marrow transplant is considered. Drop in IGG and IGM. Drop in CD+ cell counts, Abnormal lymphocyte mitogenic and antigenic responses. Marrow transplant was deferred. Patients condition is precarious. " A very brief comment would be appreciated. Thank you.
how does the Omenn syndrome block the maturation of the lymphocytes. i understand that the recombination activating gene (RAG) is mutated so it will be unable to allow the different segments of the heavy chain come together (in somatic recombination) and i can see how this would effect a B cell but how does this effect T cell maturation?
It all depends on the purpose! Me my self use Uptodate, Medscape, Merck Manual and some more. But if you want to learn about any disease, then I would first start with Merck manual, then if you want to deepen your knowledge I would continue with Medscape, and if that still is not enough, then I would read Uptodate which costs a lot of money.
Do you know the risks with adults getting a bone marrow transplant for SCID with existing CVID? I read the transplant has to be done as an infant to successfully treat this, do adults get this for SCID?
+maha77 I know that these kind of questions can be frustrating since nobody really knows the answers. Only highly specialized doctors in this field can answer these questions, and only if they know the patient really well. Therefore I always try to encourage people to find specialists in their hometown or nearby big hospitals where all your questions will be answered based on the patient's status.
this video was absolutely amazing. i have a thorough understanding of the disease now. thank you.
Really clear and succinct- very helpful! Thank you
your videos are too good, v easy to understand and remember the stuff , kindly do more videos
You're videos are so helpful. Thanks from Poland.
excellent!!!!!! Thank you so much , very good teaching and structure !!!
Super helpful thank you soooooo much! I have a better grasp on my project now! :)
Awesome presentation and explanation 👍
This is why people with incurable SCID should be put in isolated, exiled, And secluded areas with protection like bubbles and domes
Thank you very much. Really informative video, beautifully explained. I enjoyed whole lecture. Regards from Iran.
ΕΥΧΑΡΙΣΤΟΥΜΕ ΑΠΟ ΕΛΛΑΔΑ!
Thank you for the video. It helped a lot!
Great video man, helped so much with my case study.
Thank you so much!!
great explaination ..
Your mind maps are really good. Is there any book or website for such mind maps?
+Rahul Sharma Hello, I'm no giving away the mindmaps at the moment. In the future there will be alot more videos and then I will start giving away the presentations so that people can use them! Thanks for the idea!
Have a nice day!
I can find nothing on the subject of adults having SCID. I am an adult recently diagnosed with SCID, as well as having CVID.
It is frustrating that the internet has pretty much nothing on this.
I would like to know the life expectancy of such a thing. I was seeing my specialist since I was 13. I recently got a letter of medical necessity and currently on IGG subq HyQvia ramp up. The ICD code is both: 279.00 and 279.06 on www.cms.gov/ it shows both HYPOGAMMAGLOBULINEMIA UNSPECIFIED and COMMON VARIABLE IMMUNODEFICIENCY.
"Patient suffers from an unusual immune deficiency affecting bother T and B cells. His mother died in her 40's from probably the same form affecting a mutation of the IL2R.
Most IL2R mutations are fatal within 1-2 years of life. In this respect, the patients immune disorder was relatively mild. He developed however severe esophageal candida and CMV sepsis with colonic ulcerations.
Lately, his profile deteriorated and bone marrow transplant is considered.
Drop in IGG and IGM. Drop in CD+ cell counts, Abnormal lymphocyte mitogenic and antigenic responses.
Marrow transplant was deferred. Patients condition is precarious. "
A very brief comment would be appreciated. Thank you.
Great video.
thank you
"Like" is not enough for this video
Is there a book or a place where one can acquire these mind maps or something similar because they are amazing.
Is the transplant treatment and medication iS painfull for him
what are your sources? where did you get your info from?
Rubin's pathology, Robbins pathology, Merck manual, Medscape
Thanks.
how does the Omenn syndrome block the maturation of the lymphocytes. i understand that the recombination activating gene (RAG) is mutated so it will be unable to allow the different segments of the heavy chain come together (in somatic recombination) and i can see how this would effect a B cell but how does this effect T cell maturation?
can u tell us the best references for this disease?????
It all depends on the purpose! Me my self use Uptodate, Medscape, Merck Manual and some more. But if you want to learn about any disease, then I would first start with Merck manual, then if you want to deepen your knowledge I would continue with Medscape, and if that still is not enough, then I would read Uptodate which costs a lot of money.
Dr. Andras Fazakas thank you so much
Please can you post a link for this mind map, I'll even pay for it if you want
Trust me you will benefit more if you draw it yourself and study your own drawings. I can´t give these pictures due to copyright. Sorry
@@drandrasfazakas I mean, you made it yourself where is the copyright problem?
I just want it to review from it for my exams
Are there any therapies for people who have IgG who are getting weekly plasma therapy? Is a bone marrow a cure for this type of immunodeficiency?
Do you know the risks with adults getting a bone marrow transplant for SCID with existing CVID? I read the transplant has to be done as an infant to successfully treat this, do adults get this for SCID?
+maha77 I know that these kind of questions can be frustrating since nobody really knows the answers. Only highly specialized doctors in this field can answer these questions, and only if they know the patient really well. Therefore I always try to encourage people to find specialists in their hometown or nearby big hospitals where all your questions will be answered based on the patient's status.
I have scid with my 3 month not.
Waiting the result of blood cross match
With my 3 month boy