X-linked agammaglobulinemia

X-Linked agammaglobulinemia Defect in gene coding for Bruton tyrosine kinase responsible for B cell growth and maturation. 

Primary immunodeficiency diseases (PIDs) are defects of the immune system that are due to genetic abnormalities or some failure in normal embryological development. They are usually apparent at birth or develop shortly thereafter. Approximately 70 PIDs have been described, including those specihc for humoral immunity (e.g., X-linked agammaglobulinemia, immune globulin [Ig] A dehciency), cellular immunity (e.g., DiGeorge s syndrome), or both (e.g., severe combined immunodehciency syndrome). 

Conley, M. E. 1985. B cells in patients with X-linked agammaglobulinemia. J. Immunol. 134 3070-3074. 

Nomura, K., H. Kanegane, H. Karasuyama, S. Tsukada, K. Agematsu, G. Murakami, S. Sakazume, M. Sako, R. Tanaka, Y. Kuniya, T. Komeno, S. Ishihara, K. Hayashi, T. Kishimoto, and T. Miyawaki. 2000. Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway. Blood 96 610-617. 

Dominant gene disorders that could be caused by radiation include traits such as FFuntington s chorea, hypercholesterolemia, and achondroplastic dwarfism. The X-linked traits include traits such as muscular dystrophy, hemophilia, and agammaglobulinemia. However, there is no direct evidence that these diseases have been induced in humans by irradiation. 

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