X-linked severe combined immunodeficiency is a recessive hereditarydisease characterized by severe and persistent infections startingin the first months of life and associated with diarrhea andfailure to thrive.1 Affected infants almost invariably presentwith an absence of T cells and natural killer cells, normalor elevated B-cell counts, and hypogammaglobulinemia. This diseaseis rapidly fatal without bone marrow transplantation.2
The disease locus has been mapped to Xq1213,3 and thegenetic defect identified as a mutation of the chain of theinterleukin-2 receptor,4 which has been cloned and was recentlyrenamed the common (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 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 NeckerEnfants 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 ErlangenNürnberg, 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
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