Author: Brian Wu PhD. MD Candidate, Keck School of Medicine, Los Angeles, USA, Chief Editor: Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand, September 2015.
Gamma globulins are also called immunoglobulins. They are proteins produced by plasma cells and are essential to the body’s immune defense system. Agammaglobulinaemia means the absence of gamma globulins.
X-linked agammaglobulinaemia is an inherited genetic disorder first described in 1952 by Dr. Ogden Bruton. It is characterised by the body’s failure to produce mature B-lymphocytes and plasma cells. Affected patients have severe deficiencies in all immunoglobulins.
X-linked agammaglobulinaemia is also called Bruton agammaglobulinaemia.
X-linked agammaglobulinaemia is caused by mutations on Bruton’s Tyrosine Kinase (BTK) gene, which was discovered in 1993. The gene normally promotes the maturation of B-lymphocytes. Since the BTK gene is found on the X-chromosome, X-linked agammaglobulinaemia presents exclusively in males. Females can present with an autosomal recessive version of agammaglobulinaemia.
*Image courtesy Genetics 4 Medics
Patients with X-linked agammaglobulinaemia may present with:
Babies with X-linked agammaglobulinaemia appear healthy at first. They begin to have recurrent infections as the protection of their mother’s antibodies wears off.
The risk factors for X-linked agammaglobulinaemia include:
X-linked agammaglobulinaemia can be diagnosed through:
There is no cure for X-linked agammaglobulinaemia. However, treatment can greatly improve quality of life for X-linked agammaglobulinaemia patients.
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