Causes: X-Linked Agammaglobulinemia:
Genetic defect in the gene producing a protein called btk for B-cell development.
Alternations in a gene found on the X
chromosome cause XLA. This gene normally produces a protein called
btk, which is required for B-cell
development. (Source: excerpt from Primary Immune Deficiency, NIAID Fact Sheet: NIAID)
As with all medical conditions, there may be many causal factors. Further relevant information on causes of X-Linked Agammaglobulinemia may be found in:
16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the causes of X-Linked Agammaglobulinemia.
In this disease, B cells and B-cell precursors may be present in the bone marrow and peripheral blood, but a mutation in the B-cell protein tyrosine kinase causes failure of the B cells to mature and to secrete immunoglobulin. In the absence of protective immunoglobulins, the affected individual develops repeated infections. Worldwide, malnutrition is the primary cause of antibody disorders.
Humoral immune deficiencies account for 50% of all primary immunodeficiencies. IgA deficiency is the most common antibody deficiency symdrome, followed by common variable immunodeficiency (CVID). The incidence of these two disorders is 1 in 700 persons.Selective IgM deficiency is rare. IgG4 deficiency occurs in 10% to 15% of the population.
Source: Professional Guide to Diseases (Eighth Edition), 2005
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