x-chromosome inactivation (xci) is a process by which one of the copies of the x chromosome in mammalian female cells is inactivated. the xci causes a balanced x-linked gene quantity between male and females; moreover, it results mosaic females which have paternal active x in some cells and maternal active x in others. cellular mosaicism is a noteworthy phenomenon and lowers the risk of x-linke...

PURPOSE OF REVIEW Chronic hepatitis C virus infection often has autoimmune clinical and analytic features. This review analyzes recent data on the close association of chronic hepatitis C virus infection with autoimmune and lymphoproliferative processes. RECENT FINDINGS Hepatitis C virus infection has been associated with both organ-specific (thyroiditis, diabetes) and systemic autoimmune dis...

Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broa...

Dr. Annabelle Duncan, a microbiologist, has served as Australia’s scientific advisor to the VEREX and Ad Hoc Working Groups of the BWC in Geneva, and on several U.N. Special Commission (UNSCOM) biological inspections in Iraq. Dr. Kenneth G. Johnson, also a microbiologist, has served as Canada’s scientific advisor to the Ad Hoc Working Group on the BWC in Geneva and also has participated in UNSC...

We explored the involvement of CD44 isoforms in lymphoproliferative disorder (LPD) of the lacrimal gland of a Sjögren's syndrome patient with unilateral LPD. The CD44 variant with the v6 exon was selectively detected from infiltrating lymphocytes in the gland with LPD, but not from infiltrating lymphocytes in the normal lacrimal gland, suggesting that the CD44 v6 variant exon may be closely ass...

The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation of the FMR1 gene is affected. In this study, the intelligence quotients (IQs) were ascertained by the Wechsler Adult Intelligence Scale in 33 adult ...

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic ...

Mutations of the WASP gene have been previously shown to be responsible for classical Wiskott-Aldrich syndrome, isolated X-linked thrombocytopenia, and severe, congenital X-linked neutropenia. We report herewith 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other major clinical features, and carried...

X linked lymphoproliferative disease (XLP; Duncan's disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein-Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variation in phenotypic expression of the disease in these siblings described. One of the siblings with l...