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Blog #9 – Pediatric Bruton Agammaglobulinemia

Pediatric Bruton Agammaglobulinemia 

Wow – as we send out our medical professionals to find out about rare diseases, understanding them is difficult, but pronouncing this is a whole new beast! Fortunately it is more commonly known as ALD.  

If this is our first blog you are reading, we like to get some medical professionals to do some research so we can understand and help you (as a parent or a friend of a family) to better understand what it is and more importantly, what communities can you be a part of.  

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If you just know someone we would love for you to follow what we are doing, engage in some of the crazy events that we do, and click here if you want to donate or help raise some awareness for these millions of families fighting for possible during this tiring fight. 

Feel free to jump down to the medical description of this condition below but also, get in community to learn more.  Please utilize the groups below if you have not already had access to a support system amongst your journey of understanding ALD: 

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Pediatric Bruton Agammaglobulinemia or X-linked Agammaglobulinemia is a relatively rare immunodeficiency disease that mostly affects boys. The rare inherited disease makes them prone to infections in the sinuses, middle ear, and lungs. Sometimes, the infections may also involve internal organs or the bloodstream. Fortunately, the treatment is available for this rare disease, and the patients who get an early treatment get back to relatively normal lives and don’t need to go into isolation. Let’s discuss in more detail and learn about the symptoms, diagnosis, and treatment options for this rare pediatric condition. 

What Is Pediatric Bruton Agammaglobulinemia?

Also known as X-linked Agammaglobulinemia, the Pediatric Bruton Agammaglobulinemia is a rare genetic disorder that weakens the immune system. The term X-linked in the name indicates that the gene involved in this disease is present on the X chromosome. The pediatric condition mostly affects boys as they have only one X chromosome. 

Children with X-linked Agammaglobulinemia are unable to make antibodies that make the main defense of the body against viruses and bacteria. As a result, the affected kids are prone to bacterial and viral infections. 


The symptoms usually start showing up during the first 6-9 months after birth. Sometimes, the symptoms may also appear late as the child reaches 3-5 years of age. Some common symptoms of this rare pediatric condition are: 

  • Life-threatening or serious illnesses like infections of the skin, bones, eyes, lungs, nasal passages, bloodstream, and digestive tract
  • Joint disease, particularly in the knees
  • Kidney inflammation
  • Breakdown of red blood cells
  • Fewer neutrophils 
  • Muscle and skin inflammation


As the disease can have symptoms similar to other diseases, make sure to get your child examined by their healthcare provider. Diagnosis will be done after asking for details about the child’s symptoms and their health history. The healthcare provider may also want to know about the health history of the family. After physical examination, they may ask for several blood tests so that the diagnosis can be confirmed. 


The course of the treatment depends on the age, symptoms, and general health of your child. It also depends on the severity of the condition. 

Three possible treatment options can be:

  • Replacing Antibodies: By replacing antibodies, your child is given the antibodies they cannot make. It helps protect against infections and can also stop them from spreading. 
  • Infection Treatment and Prevention: The infections your child is currently suffering from are treated right away. Or, an infection can be prevented by prescribing antibiotics. 
  • Not Giving The Child Any Live Virus Vaccines: That’s because the child may develop the disease after getting the vaccine instead of developing immunity against it. These can include vaccines for mumps, measles, chickenpox, and rubella. 

If your child is suffering from Pediatric Bruton Agammaglobulinemia, you can get the latest information on treatment options and ongoing research by joining the community support groups. Or, take advantage of the work done by the Take Part Foundation and join their research initiatives to get your child a cure before the disease threatens their life. You can also fund future research and save lives.