Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

Structural design and molecular evolution of a cytokine receptor superfamily.

1990 • 2,104 citations

Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans

1993 • 1,317 citations

Utilization of the beta and gamma chains of the IL-2 receptor by the novel cytokine IL-15.

1994 • 1,008 citations

Sharing of the Interleukin-2 (IL-2) Receptor γ Chain Between Receptors for IL-2 and IL-4

1993 • 734 citations

Interaction of IL-2Rβ and γ _c Chains with Jak1 and Jak3: Implications for XSCID and XCID

1994 • 647 citations

The IL-2 Receptor Complex: Its Structure, Function, and Target Genes

1993 • 601 citations

Interleukin-2 Receptor γ Chain: a Functional Component of the Interleukin-4 Receptor

1993 • 593 citations

Functional Participation of the IL-2 Receptor γ Chain in IL-7 Receptor Complexes

1994 • 342 citations

Heterodimerization of the IL-2 receptor β- and γ-chain cytoplasmic domains is required for signalling

1994 • 338 citations

Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients

1993 • 338 citations

The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1

1993 • 306 citations

Stable growth transformation of human T lymphocytes by herpesvirus saimiri.

1992 • 299 citations

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1996 • 229 citations

Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.

1987 • 154 citations

Generation of Epstein‐Barr Virus (EBV)–Immortalized B Cell Lines

2007 • 134 citations

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.

1994 • 111 citations

Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.

1987 • 108 citations

Characterization of the human interleukin-2 receptor gamma chain gene

1993 • 88 citations

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

1994 • 74 citations

Interleukin‐2 (IL‐2) receptor γ chain mutations in X‐linked severe combined immunodeficiency disease result in the loss of high‐affinity IL‐2 receptor binding

1994 • 70 citations

An associated molecule, p64, eith high-affinity interleukin 2 receptor

1990 • 64 citations

Regulation by interleukin-2 (IL-2) and interferon gamma of IL-2 receptor gamma chain gene expression in human monocytes

1994 • 58 citations

Expansion of a maternally derived monoclonal T cell population with CD3+/CD8+/T cell receptor-gamma/delta+ phenotype in a child with severe combined immunodeficiency.

1991 • 30 citations

Fine mapping of the human SCIDX1 locus at Xq12–13.1

1993 • 17 citations