Agammaglobulinemia
What is it?
Agammaglobulinemia is the most common of the primary immunodeficiencies. Immunoglobulins are produced by differentiated B cells called plasma cells. If maturation or function of B cells is interrupted, immunoglobulins levels are reduced or absent. X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, is an inherited immune deficiency disease caused by mutation in the Bruton tyrosine kinase gene (BTK). This gene has a crucial role in the differentiation of B cells. There is also an autosomal recessive form of this disease (ARA). The basic defect in XLA is an inability of the patient to produce antibodies, making them prone to infections. Infections usually begin between 6-18 months of age because of the protection from the maternal antibodies that pass to the fetus during pregnancy.
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Signs & symptoms
XLA or ARA symptoms are frequent infections such as otitis media, sinusitis, pneumonia or bronchitis. Infections can also involve internal organs, blood infections, gastrointestinal infections and skin infections. The most common bacteria that cause infections are the pneumococcus, the streptococcus, the staphylococcus and Haemophilus influenzae
Diagnosis
The diagnosis should be considered in children with recurrent or severe bacterial infections. On physical examination, most patients will have small tonsils or lymph nodes. On blood tests, all of the immunoglobulins (IgG, IgM and IgA) are markedly reduced or absent. Low number of B cells in peripheral blood smear is the most accurate finding in XLA or ARA. Confirmation of the diagnosis can be done by DNA analysis for the mutations.
Treatment
There is no cure for XLA or ARA but treatment is with antibodies supplements given intravenously. These patients cannot receive any live viral vaccine. Immunosuppresent drugs must be avoided.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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