X-Linked Agammaglobulinemia (XLA) is an inherited immune system disorder that causes patients to be more prone to infections of various kinds. These might be infections of the inner ear, sinuses, respiratory tract, bloodstream, or internal organs. This condition is much more common in male patients, and females are more likely to be carriers of the mutation that causes it. Many patients are diagnosed early in life after repeated infections.
Babies with XLA will often appear healthy for the first month of their life since they are still protected by the antibodies that they got from their mothers at birth. However, as these antibodies clear their systems, babies who have this condition can start to develop severe and life-threatening infections in various parts of their bodies.
These patients also tend to have small tonsils, and they might have small or no lymph nodes. The most common indication that the patient has this condition is recurring and severe infections.
The cause of this condition is an X-linked agammaglobulinemia genetic mutation that prevents the body from producing antibodies that fight infection. If someone has a family member with this condition, they are 40% more likely to have it as well. The risk factor for this condition is having at least one carrier for the mutated gene that causes it.
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
Genetic testing is the only way to confirm that a patient’s recurring infections are related to XLA. A full medical history is necessary to track the consistency of infections and to see a pattern of these health problems that might indicate that this condition is the reason for the patient’s illnesses. Many patients are not diagnosed until they have many recurring infections of notable severity.
This condition cannot be prevented in most cases. People who have XLA in their family could have genetic testing done to see if they are likely to pass the gene on to any children that they have.
This condition cannot be cured, but there are some treatments that can be effective in these patients. Gamma globulin is a protein that is found in the blood that helps fight infections. This is delivered to patients via intravenous injection.
Antibiotics are also usually needed to prevent ongoing infection. Some patients will need to be on antibiotics continuously. Patients with this condition should be sure to get all of the common childhood vaccines on a schedule so that they do not suffer life-threatening complications from these illnesses. Doctors recommend that children with XLA are not vaccinated with live vaccines such as live polio, live measles-mumps-rubella vaccines, or live chicken pox vaccines.