Congenital mild form of Swiss-type agammaglobulinaemia with decreased quantity of gamma fraction of serum globulin. It is characterized by susceptibility to bacterial but not to viral infections and symptoms similar to those seen in rheumatoid arthritis. There is combined B-cell and T-cell deficiency, lymphopenia and recurrent respiratory and skin infections from the 2nd month of life. Inheritance is X-linked. In type III growth hormone deficiency is observed. The disease is a defect in the gene coding for Bruton's tyrosine kinase, a cell signalling molecule necessary for B-cell growth and development.
- O. C. Bruton:
Agammaglobulinemia. Pediatrics, Evanston, Illinois,1952, 9: 722-728.
- D. Gitlin, J. M. Craig:
The thymus and other lymphoid tissues in congenital agammaglobulinemia.
Pediatrics, Evanston, Illinois, 1963, 32: 517-530.
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