Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

doi:10.1016/j.jaci.2016.05.035

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Article

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

The Journal of allergy and clinical immunology - 1 Oct 2016

Yu Hui, Zhang Victor Wei, Stray-Pedersen Asbjørg, Hanson Imelda Celine, Forbes Lisa R, de la Morena M Teresa, Chinn Ivan K, Gorman Elizabeth, Mendelsohn Nancy J, Pozos Tamara, Wiszniewski Wojciech, Nicholas Sarah K, Yates Anne B, Moore Lindsey E, Berge Knut Erik, Sorte Hanne, Bayer Diana K, ALZahrani Daifulah, Geha Raif S, Feng Yanming, Wang Guoli, Orange Jordan S, Lupski James R, Wang Jing, Wong Lee-Jun

Abstract excerpt

BACKGROUND: Primary immunodeficiency diseases (PIDDs) are inherited disorders of the immune system. The most severe form, severe combined immunodeficiency (SCID), presents with profound deficiencies of T cells, B cells, or both at birth. If not treated promptly, affected patients usually do not live beyond infancy because of infections. Genetic heterogeneity of SCID frequently delays the diagnosis; a specific...

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PMID: 27484032
DOI: 10.1016/j.jaci.2016.05.035

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ATM
CHD7
CIITA
RAG1

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