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Farnault, Laure, MD; Chambost, Hervé, MD; Michel, Gérard, MD; Thuret, Isabelle, MD; de Saint Basile, Geneviève, MD; Fischer, Alain, MD, PhD; Picard, Capucine, MD, PhD; Picard, Christophe, MD; Orlanducci, Florence; Farnarier, Catherine, MD; Moretta, Alessandro, MD, PhD; Olive, Daniel, MD, PhD
Journal of allergy and clinical immunology, 04/2013, Letnik: 131, Številka: 4Journal Article
...little is known about the mechanisms by which homozygous JAK3 R117C missense mutations impair JAK3 signaling in lymphocyte ontogeny to result in the persistence of dysfunctional NK cells, although a hypomorphic mutation could be possible. ...the present study describes a case of T-B+NK+ SCID caused by a homozygous JAK3 missense mutation, resulting in leaky SCID.
