Journal ArticleDOI
Carrier Detection in X-Linked Agammaglobulinemia by Analysis of X-Chromosome Inactivation
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TLDR
In this article, the authors used recombinant-DNA probes to detect restriction-fragment-length polymorphisms and patterns of methylation of X-chromosome genes.Abstract:
We used a recently developed strategy to analyze patterns of X-chromosome inactivation in human cell populations in order to study female members of families with X-linked agammaglobulinemia--i.e., to detect the carrier state and to test the hypothesis that the disorder results from a defect intrinsic in the development of B cells. According to this strategy, recombinant-DNA probes simultaneously detect restriction-fragment-length polymorphisms and patterns of methylation of X-chromosome genes. Random X-inactivation patterns were observed in isolated peripheral-blood granulocytes, T lymphocytes, and B lymphocytes of women who were not carriers. In contrast, one of the two X chromosomes was preferentially active in the peripheral B cells, but not the T cells or granulocytes, of three carriers of the disorder. This observation strongly supports the hypothesis that X-linked agammaglobulinemia results from an intrinsic defect in B-cell development. Moreover, the analysis described here can be used for direct identification of carriers in families with this disease.read more
Citations
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Journal ArticleDOI
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
David Vetrie,Vorechovský I,Paschalis Sideras,Paschalis Sideras,Jill Holland,Angela F. Davies,Frances Flinter,Lennart Hammarström,Christine Kinnon,Roland J. Levinsky,Martin Bobrow +10 more
TL;DR: A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder, the first evidence that mutations in a src-related gene are involved in human genetic disease.
Journal Article
Clonal Analysis Using Recombinant DNA Probes from the X-Chromosome
Bert Vogelstein,Eric R. Fearon,Stanley R. Hamilton,Ann C. Preisinger,Huntington F. Willard,Alan M. Michelson,Arthur D. Riggs,Stuart H. Orkin +7 more
TL;DR: Several X-chromosome probes derived from the hypoxanthine phosphoribosyltransferase gene and the phosphoglycerate kinase gene could be used for clonal analysis in over 50% of American females and were found to accurately reflect clonality in more than 95% of 92 tumors tested.
Journal ArticleDOI
In utero rearrangements in the trithorax-related oncogene in infant leukaemias
Anthony M. Ford,Susan A. Ridge,Maria Elena Cabrera,Hazem Mahmoud,C. M. Steel,Li Chong Chan,M Greaves +6 more
TL;DR: Three pairs of infant twins with concordant leukaemia who each share unique (clonal) but non-constitutive HRX rearrangements in their leukaemic cells are described, providing evidence that the leukaemogenic event originates in utero and unequivocal support for the intra-placental 'metastasis' hypothesis forLeukaemia concordance in twins.
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Role of Bruton's tyrosine kinase in B cells and malignancies
TL;DR: Efficacy of BTK inhibition as a single agent therapy is strong, but resistance may develop, fueling the development of combination therapies that improve clinical responses and highlighting the importance ofBTK inhibition in cancer therapy.
Journal ArticleDOI
Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients.
Pierre Quartier,Marianne Debré,Jacques de Blic,Rodolphe de Sauverzac,Natacha Sayegh,Nada Jabado,Elie Haddad,Stéphane Blanche,Jean-Laurent Casanova,C. I. Edvard Smith,Françoise Le Deist,Geneviève de Saint Basile,Alain Fischer +12 more
TL;DR: Early IVIg replacement therapy achieving residual IgG levels >500 mg/dL is effective in preventing severe acute bacterial infections and pulmonary insufficiency and more intensive therapy may be required to fully prevent the onset of bronchiectasis, chronic sinusitis, and nonbacterial infections, particularly enteroviral infections, in all cases.
References
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