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. 1989 Oct;83(3):267-70.
doi: 10.1007/BF00285169.

Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia

R W Hendriks  1 , E J Mensink, M E Kraakman, A Thompson, R K Schuurman
Affiliations

Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia

R W Hendriks et al. Hum Genet. 1989 Oct.

Abstract

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 daughters of a male who had no agammaglobulinemia 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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