Agammaglobulinemia

Agammaglobulinemia is a rare inherited immunodeficiency disorder, characterised by a complete absence of mature B cells, which can result in severe antibody deficiency and recurrent infections ¹. This is in contrast to hypogammaglobulinaemia where there is a reduction in all types of gammaglobulins without a total absence. 

It tends to manifest in infants as soon as the protective effect of maternal immunoglobulins wanes at around six months of age.

Types

Agammaglobulinemia can occur in the following types ^1-4:

• X-linked agammaglobulinemia (XLA)

• X-linked agammaglobulinemia with growth hormone deficiency

• autosomal recessive agammaglobulinemia (ARAG)

From an imaging perspective, it is important to recognise the effects of multiple infections within the body.