Article
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.
Pediatric transplantation - 1 Nov 2011
Yu Grace P, Nadeau Kari C, Berk David R, de Saint Basile Geneviève, Lambert Nathalie, Knapnougel Perrine, Roberts Joseph, Kavanau Kristina, Dunn Elizabeth, Stiehm E Richard, Lewis David B, Umetsu Dale T, Puck Jennifer M, Cowan Morton J
Abstract excerpt
There are few reports of clinical presentation, genotype, and HCT outcomes for patients with T-B+NK+ SCID. Between 1981 and 2007, eight of 84 patients with SCID who received and/or were followed after HCT at UCSF had the T-B+NK+ phenotype. One additional patient with T-B+NK+ SCID was identified as the sibling of a patient treated at UCSF. Chart reviews were performed. Molecular analyses of IL7R, IL2RG, JAK3, and...
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