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Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
Published on: June 26, 2018
Novel monogenic diseases causing human autoimmunity
Isabelle Melki1, Yanick J Crow2
1Pédiatrie générale, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, France; Hémato-Immunologie pédiatrique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, France; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France.
Abstract:
Fuelled by the on-going sequencing revolution, the last two years have seen a number of exciting discoveries relating to monogenic disorders predisposing to autoimmunity that provide new insights into the function of the human immune system. Here we discuss a selection of these diseases due to mutations in PRKCD, CTLA4, STAT3, IFIH1, TMEM173 and COPA.
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