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Previous Volume 330:969-973 April 7, 1994 Number 14 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.

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The inability to initiate switching from one immunoglobulin isotype to another is the hallmark of the hyper-IgM immunodeficiency syndrome¹. Patients with this primary immune disorder, originally termed "dysgammaglobulinemia type 1,"² usually present with recurrent bacterial infections, including otitis media and pneumonia. Additional clinical features include opportunistic infections, recurrent neutropenia, lymphoid hyperplasia, and autoimmune manifestations. Abnormalities of serum immunoglobulins include low levels or an absence of IgG, IgA, and IgE and normal or, more frequently, elevated levels of IgM and IgD. The hyper-IgM syndrome can be inherited in an X-linked or autosomal recessive fashion.

The candidate gene for this disease . . . [Full Text of this Article]

Methods

Families with the Hyper-IgM Syndrome

Prenatal Analysis

Microsatellite Typing

Mutational Analysis of the CD40 Ligand Gene

Results

CD40 Ligand Microsatellite Repeat

Segregation of the CD40 Ligand CA Repeat in Families with the Hyper-IgM Syndrome

Prenatal Diagnosis of the Hyper-IgM Syndrome

Discussion

Source Information

From INSERM Unite 132, Hopital Necker-Enfants Malades, Paris (J.P.D., S.M., A.F., G.S.B.), and the Glaxo Institute for Molecular Biology, Plan-les-Ouates, Geneva (J.-F.G., J.-Y.B.).

Address reprint requests to Dr. DiSanto at INSERM Unite 132, Hopital Necker-Enfants Malades, 149, rue de Sevres, 75743 Paris CEDEX 15, France.

References

This article has been cited by other articles:

• Buckley, R. H. (2000). Primary Immunodeficiency Diseases Due to Defects in Lymphocytes. NEJM 343: 1313-1324 [Full Text]  
• Thomas, C., de Saint Basile, G., Le Deist, F., Theophile, D., Benkerrou, M., Haddad, E., Blanche, S., Fischer, A. (1995). Correction of X-Linked Hyper-IgM Syndrome by Allogeneic Bone Marrow Transplantation. NEJM 333: 426-429 [Full Text]  
• Rosen, F. S., Cooper, M. D., Wedgwood, R. J.P. (1995). The Primary Immunodeficiencies. NEJM 333: 431-440 [Full Text]  
• Geha, R. S., Rosen, F. S. (1994). The Genetic Basis of Immunoglobulin-Class Switching. NEJM 330: 1008-1009 [Full Text]