FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 330:1488-1491 May 26, 1994 Number 21 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

X-Linked Agammaglobulinemia is the prototypical humoral immunodeficiency first described by Bruton in 1952¹. It is characterized by a paucity of circulating B cells and a drastic reduction in the serum concentrations of immunoglobulins^2,3. Studies analyzing patterns of X chromosome inactivation showed that the genetic defect was intrinsic to the B-cell lineage,⁴ and mapping studies located the defect in the midportion of the long arm of the X chromosome at Xq22^5,6,7. Recently, two reports demonstrated that mutations of the cytoplasmic tyrosine kinase gene Btk (the gene for Bruton's tyrosine kinase, previously designated bpk or atk) are responsible for . . . [Full Text of this Article]

Methods

Patient's Characteristics

Cell Lines

RNA Analysis

Protein Analysis

Amplification and Sequencing

Results

Discussion

Source Information

From the Department of Microbiology and Molecular Genetics (D.C.S., D.J.R., D.E.H.A, O.N.W.) and the Howard Hughes Medical Institute (O.N.W.), University of California, Los Angeles; and the Department of Pediatrics, University of Tennessee College of Medicine, and the Department of Immunology, St. Jude Children's Research Hospital -- both in Memphis (O.P., M.E.F.-H., M.E.C.).

Address reprint requests to Dr. Conley at St. Jude Children's Research Hospital, 332 N. Lauderdale, Memphis, TN 38101.

References

Related Letters:

Atypical X-Linked Agammaglobulinemia
Kornfeld S. J., Good R. A., Litman G. W., Parolini O., Rohrer J., Conley M. E., Buckley R. H.
Extract | Full Text  
N Engl J Med 1994; 331:949-951, Oct 6, 1994. Correspondence

This article has been cited by other articles:

• Yu, P. W., Tabuchi, R. S., Kato, R. M., Astrakhan, A., Humblet-Baron, S., Kipp, K., Chae, K., Ellmeier, W., Witte, O. N., Rawlings, D. J. (2004). Sustained correction of B-cell development and function in a murine model of X-linked agammaglobulinemia (XLA) using retroviral-mediated gene transfer. Blood 104: 1281-1290 [Abstract] [Full Text]  
• Cooper, M. D., Lanier, L. L., Conley, M. E., Puck, J. M. (2003). Immunodeficiency Disorders. ASH Education Book 2003: 314-330 [Abstract] [Full Text]  
• Jo, E.-K., Kanegane, H., Nonoyama, S., Tsukada, S., Lee, J.-H., Lim, K., Shong, M., Song, C.-H., Kim, H.-J., Park, J.-K., Miyawaki, T. (2001). Characterization of Mutations, Including a Novel Regulatory Defect in the First Intron, in Bruton's Tyrosine Kinase Gene from Seven Korean X-Linked Agammaglobulinemia Families. J. Immunol. 167: 4038-4045 [Abstract] [Full Text]  
• Mattsson, P. T., Lappalainen, I., Backesjo, C.-M., Brockmann, E., Lauren, S., Vihinen, M., Smith, C. I. E. (2000). Six X-Linked Agammaglobulinemia-Causing Missense Mutations in the Src Homology 2 Domain of Bruton's Tyrosine Kinase: Phosphotyrosine-Binding and Circular Dichroism Analysis. J. Immunol. 164: 4170-4177 [Abstract] [Full Text]  
• Rohrer, J., Conley, M. E. (1999). Correction of X-Linked Immunodeficient Mice by Competitive Reconstitution With Limiting Numbers of Normal Bone Marrow Cells. Blood 94: 3358-3365 [Abstract] [Full Text]  
• Goldman, A. S., Miles, S. E., Rudloff, H. E., Palkowetz, K. H., Schmalstieg, F. C. Jr. (1999). Immunodeficiency Due to a Unique Protracted Developmental Delay in the B-Cell Lineage. CVI 6: 161-167 [Abstract] [Full Text]  
• Rosen, F. S., Cooper, M. D., Wedgwood, R. J.P. (1995). The Primary Immunodeficiencies. NEJM 333: 431-440 [Full Text]  
• Kornfeld, S. J., Good, R. A., Litman, G. W., Parolini, O., Rohrer, J., Conley, M. E., Buckley, R. H. (1994). Atypical X-Linked Agammaglobulinemia. NEJM 331: 949-951 [Full Text]  
• Buckley, R. H. (1994). Assessing Inheritance of Agammaglobulinemia. NEJM 330: 1526-1528 [Full Text]