[MIM 300 300]

(X-linked agammaglobulinemia)

The estimated prevalence is between 1/350,000 and 1/700,000. X-linked recessive transmission of mutations of the BTK gene (Xq21.3-q22). This gene codes for Bruton's tyrosine kinase  and its mutation is responsible for 90 % of the hereditary B celldiseases. This gene is part of the Src family   which are proto-oncogenes 

There is another, much rarer X-linked form (10 published cases), where agammaglobulinemia is associated with growth hormone deficiency (Fleisher syndrome) [MIM 307 200].

The pure deficiency in the lymphocytes B - plasmacytes cell line - leads to a deficiency in IgG and therefore in humoral immunity.

Onset of the first signs in the very young child, in the first year of life, in the form of repeated infections, especially respiratory and more rarely, digestive and cutaneous ones, especially of bacterial origin.

Treatment: regular administration of IV immunoglobulins.

Anesthetic implications: 

strict aseptic rules, difficult peripheral venous access

References : 

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Updated: December 2021