The diversity of clinical course and the pathogensis in primary antibody deficiency

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X-linked agammaglobulinemia (XLA) develops due to mutation of tyrosine kinase BTK gene essential for B-cell differentiation. We examined the long-term course of four cases in 2 XLA family. Family 1 had missense mutations (L111R) in the BTK gene. Proband was suffering from severe infection, such as pleurisy and osteomyelitis. He developed pleurisy as an opportunistic infection by Helicobacter bacteria. The abnormally high level of endotoxin persisted. In family 2 mutation of the splice donor site of the BTK gene (IVS11+3 G>T) caused the skipping of exon 11. Proband (38 years), have not developed serious infections. Cousin of the proband, are enforced at the home once a week gamma globulin subcutaneous injection. The susceptibility to infection is not observed in family 2. The clinical course was variable in any individual case even with enough trough IgG level.