The New England Journal of Medicine
e-mail icon  FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |    Advanced Search
Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe
 
Original Article
Brief Report
PreviousPrevious
Volume 335:1563-1567 November 21, 1996 Number 21
NextNext

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells
Volker Stephan, M.D., Volker Wahn, M.D., Françoise Le Deist, M.D., Uta Dirksen, M.D., Barbara Bröker, Ph.D., Ingrid Müller-Fleckenstein, Gerd Horneff, M.D., Horst Schroten, M.D., Alain Fischer, M.D., Ph.D., and Geneviève de Saint Basile, M.D., Ph.D.

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

 Sign up for free e-toc
 

This Article
-Full Text
- PDF

Tools and Services
-Add to Personal Archive
-Add to Citation Manager
-Notify a Friend
-E-mail When Cited

More Information
-PubMed Citation
X-linked severe combined immunodeficiency is a recessive hereditary disease characterized by severe and persistent infections starting in the first months of life and associated with diarrhea and failure to thrive.1 Affected infants almost invariably present with an absence of T cells and natural killer cells, normal or elevated B-cell counts, and hypogammaglobulinemia. This disease is rapidly fatal without bone marrow transplantation.2

The disease locus has been mapped to Xq12–13,3 and the genetic defect identified as a mutation of the {gamma} chain of the interleukin-2 receptor,4 which has been cloned and was recently renamed the common {gamma} ({gamma}c) chain because of its . . . [Full Text of this Article]

Case Report

Methods

Flow Cytometry

Lymphocyte Proliferation

Establishment of B-Cell and T-Cell Lines

DNA Analysis

Results

Immunologic Studies

Studies of the {gamma}c Chain

Discussion


Source Information

From Universitätskinderklinik, Heinrich-Heine Universität, Düsseldorf, Germany (V.S., V.W., U.D., G.H., H.S.); INSERM Unité 429, Hôpital Necker–Enfants Malades, Paris (F.L.D., A.F., G.S.B.); Bernhard Nocht-Institut, Hamburg, Germany (B.B.); and Institut für Klinische und Molekulare Virologie, Universität Erlangen–Nürnberg, Nuremberg, Germany (I.M.-F.).

Address reprint requests to Dr. Wahn at Heinrich-Heine University Düsseldorf, Department of Pediatrics, Moorenstr. 5, 40225 Düsseldorf, Germany.

References


This article has been cited by other articles:



HOME  |  SUBSCRIBE  |  SEARCH  |  CURRENT ISSUE  |  PAST ISSUES  |  COLLECTIONS  |  PRIVACY  |  HELP  |  beta.nejm.org

Comments and questions? Please contact us.

The New England Journal of Medicine is owned, published, and copyrighted © 2008 Massachusetts Medical Society. All rights reserved.