Bubble Boy Disease | What is SCID and How is it Treated?
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9 ماه پیش
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Have you ever wondered about Bubble Boy disease or Severe Combined Immunodeficiency (SCID)? Well, you're in the right place because today, we're diving deep into the world of SCID. We'll explore the fundamental questions: What is Severe Combined Immunodeficiency (SCID)? Which gene is affected in Severe Combined Immunodeficiency? What are the symptoms and features of Severe Combined Immunodeficiency? And, last but not least, how can Severe Combined Immunodeficiency be treated or managed?
Let's kick things off with an exploration of Severe Combined Immunodeficiency (SCID). SCID is a group of incredibly rare and potentially fatal inherited disorders of the immune system. Normally, our immune system fights off bacterial and viral attacks, but individuals with SCID have a malfunction in their immune system, leaving them vulnerable to infections. Did you know that in the United States, approximately 1 in 58,000 babies is born with SCID each year? It's more common in males and certain ethnic groups, such as Native Americans and Arabs. You might also know SCID as the "Bubble Boy disease," made famous by David Vetter, who lived in a plastic bubble for 12 years in the 1970s due to SCID.
Now, let's delve into the genetics behind SCID. There are various types of SCID, each linked to a different gene. The most common form, SCID-X1, is caused by a mutation in the IL2RG gene, which resides on the X chromosome. This gene is responsible for producing a crucial protein in the immune system. In SCID-X1, individuals have a non-functioning copy of this gene, rendering their immune system ineffective. As SCID-X1 follows an X-linked recessive inheritance pattern, it primarily affects boys, who inherit the faulty gene from their mothers.
So, what are the symptoms and features of Severe Combined Immunodeficiency? Symptoms typically manifest within the first few months of life, with affected babies experiencing frequent infections like ear and sinus infections, persistent coughs, and skin rashes. Some infections can be life-threatening, including pneumonia, meningitis, and sepsis. Unfortunately, antibiotics often don't work effectively for people with SCID, making bacterial infections challenging to treat, and without intervention, children with SCID rarely live beyond age 2.
Finally, let's explore the treatment and management of Severe Combined Immunodeficiency. Children with SCID must avoid germ-rich environments to prevent infections. Immediate placement in a sterile environment is common for newborns at risk. Treatment options include antibiotics, anti-viral drugs, and antibodies from healthy donors to prevent infections. One potential cure is a bone marrow transplant, where stem cells from a healthy donor are transplanted into the person with SCID to provide them with a functional immune system. Finding a suitable genetic match is the primary challenge.
Another promising avenue is gene therapy, which involves introducing a working copy of the IL2RG gene into the patient's own bone marrow stem cells and then returning them to the body. While gene therapy is still evolving, it has shown promise in treating various forms of SCID and is expected to become more accessible in the future.
Thank you for embarking on this fascinating learning journey with us. Stay tuned for more innovative topics in the future! If you have any questions or feedback, please don't hesitate to leave a comment below.
Timestamps:
0:00 Introduction
0:09 Channel Promo
0:19 Concept Overview
0:41 What is Severe Combined Immunodeficiency (SCID)?
1:31 Which gene is affected by Severe Combined Immunodeficiency (SCID)?
2:52 What are the symptoms and features?
3:34 How to Treat or Manage Severe Combined Immunodeficiency (SCID)?
Have you ever wondered about Bubble Boy disease or Severe Combined Immunodeficiency (SCID)? Well, you're in the right place because today, we're diving deep into the world of SCID. We'll explore the fundamental questions: What is Severe Combined Immunodeficiency (SCID)? Which gene is affected in Severe Combined Immunodeficiency? What are the symptoms and features of Severe Combined Immunodeficiency? And, last but not least, how can Severe Combined Immunodeficiency be treated or managed?
Let's kick things off with an exploration of Severe Combined Immunodeficiency (SCID). SCID is a group of incredibly rare and potentially fatal inherited disorders of the immune system. Normally, our immune system fights off bacterial and viral attacks, but individuals with SCID have a malfunction in their immune system, leaving them vulnerable to infections. Did you know that in the United States, approximately 1 in 58,000 babies is born with SCID each year? It's more common in males and certain ethnic groups, such as Native Americans and Arabs. You might also know SCID as the "Bubble Boy disease," made famous by David Vetter, who lived in a plastic bubble for 12 years in the 1970s due to SCID.
Now, let's delve into the genetics behind SCID. There are various types of SCID, each linked to a different gene. The most common form, SCID-X1, is caused by a mutation in the IL2RG gene, which resides on the X chromosome. This gene is responsible for producing a crucial protein in the immune system. In SCID-X1, individuals have a non-functioning copy of this gene, rendering their immune system ineffective. As SCID-X1 follows an X-linked recessive inheritance pattern, it primarily affects boys, who inherit the faulty gene from their mothers.
So, what are the symptoms and features of Severe Combined Immunodeficiency? Symptoms typically manifest within the first few months of life, with affected babies experiencing frequent infections like ear and sinus infections, persistent coughs, and skin rashes. Some infections can be life-threatening, including pneumonia, meningitis, and sepsis. Unfortunately, antibiotics often don't work effectively for people with SCID, making bacterial infections challenging to treat, and without intervention, children with SCID rarely live beyond age 2.
Finally, let's explore the treatment and management of Severe Combined Immunodeficiency. Children with SCID must avoid germ-rich environments to prevent infections. Immediate placement in a sterile environment is common for newborns at risk. Treatment options include antibiotics, anti-viral drugs, and antibodies from healthy donors to prevent infections. One potential cure is a bone marrow transplant, where stem cells from a healthy donor are transplanted into the person with SCID to provide them with a functional immune system. Finding a suitable genetic match is the primary challenge.
Another promising avenue is gene therapy, which involves introducing a working copy of the IL2RG gene into the patient's own bone marrow stem cells and then returning them to the body. While gene therapy is still evolving, it has shown promise in treating various forms of SCID and is expected to become more accessible in the future.
Thank you for embarking on this fascinating learning journey with us. Stay tuned for more innovative topics in the future! If you have any questions or feedback, please don't hesitate to leave a comment below.
Timestamps:
0:00 Introduction
0:09 Channel Promo
0:19 Concept Overview
0:41 What is Severe Combined Immunodeficiency (SCID)?
1:31 Which gene is affected by Severe Combined Immunodeficiency (SCID)?
2:52 What are the symptoms and features?
3:34 How to Treat or Manage Severe Combined Immunodeficiency (SCID)?
9 ماه پیش
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