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

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

1993 • 1,317 citations

Interleukin-2 Receptor γ Chain: a Functional Component of the Interleukin-7 Receptor

1993 • 1,128 citations

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

1994 • 1,008 citations

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

1992 • 835 citations

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

1993 • 734 citations

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1993 • 692 citations

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

1994 • 342 citations

The rapid detection of unknown mutations in nucleic acids

1993 • 320 citations

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

1993 • 306 citations

Sharing of the IL-2 receptor γ chain with the functional IL-9 receptor complex

1995 • 189 citations

Function of the interleukin-2 (IL-2) receptor gamma-chain in biologic responses of X-linked severe combined immunodeficient B cells to IL-2, IL-4, IL-13, and IL-15

1995 • 135 citations

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1990 • 121 citations

IL-2Rγ Gene Microdeletion Demonstrates That Canine X-Linked Severe Combined Immunodeficiency Is a Homologue of the Human Disease

1994 • 113 citations

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

1994 • 111 citations

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis

1994 • 101 citations

Primary immunodeficiency diseases

1986 • 91 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

Characterization of cDNAs encoding the murine interleukin 2 receptor (IL-2R) gamma chain: chromosomal mapping and tissue specificity of IL-2R gamma chain expression.

1993 • 65 citations

X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.

1990 • 54 citations

USE OF X CHROMOSOME INACTIVATION ANALYSIS TO ESTABLISH CARRIER STATUS FOR X-LINKED SEVERE COMBINED IMMUNODEFICIENCY

1988 • 49 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

Primary immunodeficiency diseases. Report of a World Health Organization scientific group.

1986 • 15 citations

Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21.

1994 • 4 citations

Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.

1994 • 2 citations

Patterns of X chromosome inactivation in haematopoietic cells of female carriers of X linked severe combined immunodeficiency.

1993 • 2 citations