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Literature DB >> 20683683

Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders.

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.

Entities: Disease

Mesh：

Year: 2010 PMID： 20683683 DOI： 10.1007/s11882-010-0137-8

Source DB: PubMed Journal: Curr Allergy Asthma Rep ISSN： 1529-7322 Impact factor: 4.806

48 in total

Review 1. Flow cytometry: an introduction.

Authors: Alice L Givan
Journal: Methods Mol Biol Date: 2004

Review 2. Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

Authors: Janita Thusberg; Mauno Vihinen
Journal: Hum Mutat Date: 2009-05 Impact factor: 4.878

Review 3. Sequencing technologies - the next generation.

Authors: Michael L Metzker
Journal: Nat Rev Genet Date: 2009-12-08 Impact factor: 53.242

4. Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.

Authors: T Futatani; C Watanabe; Y Baba; S Tsukada; H D Ochs
Journal: Br J Haematol Date: 2001-07 Impact factor: 6.998

Review 5. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.

Authors: Kim E Nichols; Cindy S Ma; Jennifer L Cannons; Pamela L Schwartzberg; Stuart G Tangye
Journal: Immunol Rev Date: 2005-02 Impact factor: 12.988

6. Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations.

Authors: S Kawai; M Minegishi; Y Ohashi; Y Sasahara; S Kumaki; T Konno; H Miki; J Derry; S Nonoyama; T Miyawaki; K Horibe; N Tachibana; E Kudoh; Y Yoshimura; Y Izumikawa; M Sako; S Tsuchiya
Journal: J Immunol Methods Date: 2002-02-01 Impact factor: 2.303

7. Primary immunodeficiencies: 2009 update.

Authors: Luigi D Notarangelo; Alain Fischer; Raif S Geha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Lennart Hammartröm; Shigeaki Nonoyama; Hans D Ochs; Jennifer Puck; Chaim Roifman; Reinhard Seger; Josiah Wedgwood
Journal: J Allergy Clin Immunol Date: 2009-12 Impact factor: 10.793

8. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.

Authors: Raif S Geha; Luigi D Notarangelo; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Alain Fischer; Lennart Hammarström; Shigeaki Nonoyama; Hans D Ochs; Jennifer M Puck; Chaim Roifman; Reinhard Seger; Josiah Wedgwood
Journal: J Allergy Clin Immunol Date: 2007-10 Impact factor: 10.793

Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders.

Review 1. Flow cytometry: an introduction.

Review 2. Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

Review 3. Sequencing technologies - the next generation.

4. Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.

Review 5. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.

6. Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations.

7. Primary immunodeficiencies: 2009 update.

8. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.

Review 9. Phagocyte immunodeficiencies and their infections.

Review 10. Defects in the leukocyte adhesion cascade.

Review 1. Laboratory diagnosis of primary immunodeficiencies.

Review 2. Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies.

3. Primary immunodeficiency.