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Previous Volume 338:291-295 January 29, 1998 Number 5 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 PDF Editorial by Puck, J. M. Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

The Wiskott–Aldrich syndrome is a life-threatening X-linked recessive disorder. Affected males present with recurrent infections, eczema, and thrombocytopenia with small platelets. The immune defect involves both humoral and cellular immunity and increases in severity with age.¹

The gene involved in this disease, located on the short arm of the X chromosome in the region Xp11.22–23, was recently cloned and named the Wiskott–Aldrich syndrome protein (WASP) gene.^2,3 Different mutations or deletions within the WASP gene have been described in patients with the Wiskott–Aldrich syndrome and X-linked thrombocytopenia.⁴ The gene is expressed in early progenitor cells as well as in . . . [Full Text of this Article]

Case Report

Methods

Results

Immunologic and Hematologic Characteristics

Analysis of X-Chromosome Inactivation in Cells from Peripheral Blood and Buccal Mucosa

Identification of a Missense Mutation in the WASP Gene

Discussion

Source Information

From the Institute of Immunology–Vienna International Research Cooperation Center at Novartis Forschungsinstitut, University of Vienna (O.P., W.K.), and St. Anna Children's Hospital (G.R., O.A.H., J.P., H.G., W.H.) — both in Vienna, Austria.

Address reprint requests to Dr. Parolini at the Institute of Immunology–VIRCC at NFI, University of Vienna, Brunnerstr. 59, A-1235 Vienna, Austria.

References

Related Letters:

X-Linked Wiskott–Aldrich Syndrome in a Girl
Cazzola M., Bergamaschi G., Luzzatto L., Martini G., Parolini O., Knapp W., Holter W.
Extract | Full Text  
N Engl J Med 1998; 338:1850-1851, Jun 18, 1998. Correspondence

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