This is the hereditary disease linked to the X chromosome

Bruton's disease or X-linked agammaglobulinemia is an inherited disorder of the immune system that makes the person with it less able to fight infections.

This pathology was first described in 1952 by Dr. Ogden Bruton. “People who have X-linked agammaglobulinemia can have infections of the inner ear, sinuses, respiratory tract, bloodstream, and internal organs,” they point out from the Mayo Clinic.

"Although there is no cure, there are treatments that are aimed at strengthening the immune system"

According to this clinic, it almost exclusively affects men, although women can be genetic carriers of the condition. Most people with this condition are diagnosed in infancy or early childhood, after repeated infections, although some are not diagnosed until adulthood.

Main symptoms, how to recognize it?

This disorder results in a lack of B lymphocytes (or B cells, a type of lymphocyte) and a very low or absent level of antibodies (immunoglobulins). The Mayo Clinic states that "babies with X-linked agammaglobulinemia generally appear healthy for the first few months because they are protected by the antibodies they received from their mothers before they were born."

When these antibodies are removed from their systems, babies frequently begin to develop serious and recurring bacterial infections, including those of the ears, lungs, sinuses, and skin, that can be life-threatening around 6 months of age.

Babies (males) born with this pathology have very small tonsils and their lymph nodes (those responsible for helping to fight infections and diseases) are very small or non-existent.

This disorder occurs as a result of a genetic mutation that makes people who have it unable to produce antibodies to fight infections. “About 40% of those who suffer from the condition have a family member who also suffers from it,” they point out from the Mayo Clinic.

Although those affected can lead a completely normal life, it is true that there are some complications related to this disease such as:

Diagnosis and treatment

Although there is currently no cure for X-linked agammaglobulinemia, there are treatments that aim to boost the immune system so that infections can be prevented and treated if they do occur.

As for the diagnosis, it is usually complicated, it is the doctor who has to collect your medical history to see if you have had recurrent infections. If in doubt, you could order a blood test and, according to the Mayo Clinic, "may recommend genetic testing to confirm the diagnosis."

A team of paediatricians from Navarra assured in the study on the early diagnosis of this pathology that "the most important and complex thing in turn is to establish the suspected diagnosis, since it is an infrequent disease that presents with very common manifestations, such as It's infections." In this line, the working group ensures that once the disease is suspected, "it is important to refer the patient to a specialized center to perform the relevant tests", such as a blood test with an immunoglobulin count. "The diagnosis of certainty is established by genetic analysis and the treatment consists of the early administration of intravenous gamma globulin", maintain the pediatricians.

On the other hand, there are some medications that can help treat X-linked agammaglobulinemia: