Summary
X-Linked agammaglobulinemia (XLA) is a severe antibody deficiency disease in man, resulting from an arrest in differentiation of pre-B cells. XLA is recessive: female carriers do not exhibit antibody deficiency, but manifest an exclusive inactivation of the XLA-carrying X chromosome in all peripheral blood B lymphocytes. An exclusive inactivation of the paternal X chromosome in the B lymphocytes of all daugthers thers of a male who had no agammalobulineamia demonstrated that the XLA defect can originate from healthy males. These males are X chromosomal mosaics. X-Chromosomal RFLP segregation analyses in other XLA pedigrees suggest a frequent introduction of XLA by healthy males. This implies that XLA often originates from mitotic errors, either at postmeiotic or early postzygotic stages.
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Hendriks, R.W., Mensink, E.J.B.M., Kraakman, M.E.M. et al. Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia. Hum Genet 83, 267–270 (1989). https://doi.org/10.1007/BF00285169
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DOI: https://doi.org/10.1007/BF00285169