title: Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia.
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.
authors.affiliation: Department of Immunohaematology, University Medical Center, Leiden, The Netherlands.
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
authors.forename: E J
authors.initials: EJ
authors.lastname: Mensink
authors.forename: M E
authors.initials: ME
authors.lastname: Kraakman
authors.forename: A
authors.initials: A
authors.lastname: Thompson
authors.forename: R K
authors.initials: RK
authors.lastname: Schuurman
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics*; D015139:Blotting, Southern; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome