Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.

Published

Journal Article

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 the genes encoding the CD3 T-cell receptor components δ (CD3D), ε (CD3E), and ζ (CD3Z) were carried out. IL7R mutations were documented in four patients and CD3D mutations in two others. Three patients had no defects found. Only two of nine patients had an HLA-matched related HCT donor. Both survived, and neither developed GVHD. Five of seven recipients of haploidentical grafts survived. Although the majority of reported cases of T-B+NK+ SCID are caused by defects in IL7R, CD3 complex defects were also found in this series and should be considered when evaluating patients with T-B+NK+ SCID. Additional genes, mutations in which account for T-B+NK+ SCID, remain to be found. Better approaches to early diagnosis and HCT treatment are needed for patients lacking an HLA-matched related donor.

Full Text

Duke Authors

Cited Authors

  • Yu, GP; Nadeau, KC; Berk, DR; de Saint Basile, G; Lambert, N; Knapnougel, P; Roberts, J; Kavanau, K; Dunn, E; Stiehm, ER; Lewis, DB; Umetsu, DT; Puck, JM; Cowan, MJ

Published Date

  • November 2011

Published In

Volume / Issue

  • 15 / 7

Start / End Page

  • 733 - 741

PubMed ID

  • 21883749

Pubmed Central ID

  • 21883749

Electronic International Standard Serial Number (EISSN)

  • 1399-3046

Digital Object Identifier (DOI)

  • 10.1111/j.1399-3046.2011.01563.x

Language

  • eng

Conference Location

  • Denmark