IL2RGbase: a database of γc-chain defects causing human X-SCID

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

1993 • 1,317 citations

Cloning of the γ Chain of the Human IL-2 Receptor

1992 • 835 citations

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

1994 • 647 citations

Functional Activation of Jak1 and Jak3 by Selective Association with IL-2 Receptor Subunits

1994 • 581 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

Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation.

1977 • 177 citations

In vitro analysis of metabolic predisposition to drug hypersensitivity reactions

1995 • 117 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

gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function

1996 • 107 citations

Severe Combined Immunodeficiency Disease

1977 • 104 citations

Signal Transduction Pathway of Interleukin-4 and Interleukin-13 in Human B Cells Derived from X-linked Severe Combined Immunodeficiency Patients

1996 • 102 citations

Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

1994 • 80 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

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

1995 • 45 citations

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

1995 • 45 citations

Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: interleukin-15 binds to the B cells but is not internalized efficiently

1995 • 39 citations

Detection of Three Nonsense Mutations and One Missense Mutation in the Interleukin-2 Receptor γ Chain Gene in SCIDX1 That Differently Affect the mRNA Processing

1994 • 30 citations

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R? chain gene by single-strand conformation polymorphism analysis

1995 • 25 citations

Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.

1993 • 24 citations

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

1995 • 24 citations

Three novel mutations in the interleukin-2 receptor ? chain gene in four Japanese patients with X-linked severe combined immunodeficiency

1995 • 14 citations