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Review
. 2002 May;109(10):1261-9.
doi: 10.1172/JCI15769.

Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways

Affiliations
Review

Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways

Fabio Candotti et al. J Clin Invest. 2002 May.
No abstract available

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Figures

Figure 1
Figure 1
Schematic representation of lymphoid development and genetic lesions leading to immunodeficiency.
Figure 2
Figure 2
The development of lymphoid cells is dependent upon the expression and signaling by cytokine receptors, antigen receptors, and adhesion/accessory molecules. Mutations of many different genes can interfere with proper lymphoid development and function and, consequently, can lead to immunodeficiency.

References

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    1. Noguchi M, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73:147–157. - PubMed
    1. Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998;20:394–397. - PubMed
    1. Macchi P, et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID) Nature. 1995;377:65–68. - PubMed

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