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Review
. 2009 Oct;21(5):466-71.
doi: 10.1016/j.coi.2009.07.003. Epub 2009 Aug 3.

Genetics of hypogammaglobulinemia: what do we really know?

Mary Ellen Conley  1
Affiliations
Review

Genetics of hypogammaglobulinemia: what do we really know?

Mary Ellen Conley. Curr Opin Immunol. 2009 Oct.

Abstract

In the past, immunodeficiencies were categorized based on clinical and laboratory findings in the affected patient. Now we are more likely to define them based on the specific gene involved. One might expect this shift to increase the precision and clarity of diagnosis but in the last few years it has become increasingly clear that identification of a mutation in a specific gene may not tell the whole story. Some gene defects may reliably result in clinical disease, others may act as susceptibility factors that are more common in patients with immunodeficiency but can also be found in otherwise healthy individuals. Distinguishing between these two types of gene defects is essential for informative genetic counseling.

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Figures

Fig. 1
Fig. 1
The pie diagram shows the percentage of patients with early defects in B cell development who have mutations in each of the genes shown. These are patients with the early onset of recurrent infections, severe hypogammaglobulinemia and absent or markedly reduced numbers of circulating B cells, but no other medical problems.
Fig. 2
Fig. 2
This pie diagram shows the percentage of patients with CVID who have a family history of immunodeficiency or who have a known genetic defect.
See this image and copyright information in PMC

References

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