The X-linked hyper-IgM syndrome is a rare immunodeficiency diseasein which the ability of B cells to switch immunoglobulin productionfrom IgM to IgG, IgA, and IgE is defective.1 A variety of mutationsof the gene encoding the CD40 ligand cause the immunodeficiency.2,3,4,5,6The functional effect of the mutation is that the CD40 ligandon T cells cannot interact with the CD40 glycoprotein on thesurface of B cells. This interaction normally mediates immunoglobulinclass switching by B cells. The deficiency of IgG and IgA leadsto recurrent infections of the respiratory tract that can beprevented by intravenous immune . . . [Full Text of this Article]
Case Report
Methods
Results
Discussion
Source Information
From the Unité d'Immunohématologie (C.T., M.B., E.H., S.B., A.F.), INSERM Unité 429 (G.S.B., F.L.D., A.F.), and the Laboratoire de Cytogénétique, Hôpital des Enfants-Malades (D.T.) all in Paris.
Address reprint requests to Dr. Fischer at INSERM Unité 429, Hôpital Necker, 149 Rue de Sevres, 75015 Paris, France.
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