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Molecular- and Flow Cytometry-based Diagnosis of Primary Immunodeficiency Disorders

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Date 2010 Aug 5
PMID 20683683
Citations 6
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Abstract

Primary immunodeficiencies are an expanding group of genetic disorders resulting in recurrent and/or severe infections, autoimmunity, or autoinflammation. The laboratory plays a critical role in the diagnosis of these conditions given their frequently overlapping signs and symptoms. We discuss here advances in flow cytometry and molecular techniques applied to the study of primary immunodeficiencies.

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References
1.
Metzker M . Sequencing technologies - the next generation. Nat Rev Genet. 2009; 11(1):31-46. DOI: 10.1038/nrg2626. View

2.
Bleesing J, Fleisher T . Cell function-based flow cytometry. Semin Hematol. 2001; 38(2):169-78. DOI: 10.1016/s0037-1963(01)90050-2. View

3.
Rigaud S, Fondaneche M, Lambert N, Pasquier B, Mateo V, Soulas P . XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006; 444(7115):110-4. DOI: 10.1038/nature05257. View

4.
Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J . Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol. 2006; 18(6):347-61. DOI: 10.1016/j.smim.2006.07.010. View

5.
SANGER F, Nicklen S, Coulson A . DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977; 74(12):5463-7. PMC: 431765. DOI: 10.1073/pnas.74.12.5463. View