Severe combined immune deficiencies due to defects of the common ? chain-JAK3 signaling pathway

STATs and Gene Regulation

1997 • 3,927 citations

A family of cytokine-inducible inhibitors of signalling

1997 • 2,055 citations

Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice.

1994 • 1,572 citations

Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine.

1995 • 1,447 citations

A new protein containing an SH2 domain that inhibits JAK kinases

1997 • 1,413 citations

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

1993 • 1,317 citations

Structure and function of a new STAT-induced STAT inhibitor

1997 • 1,308 citations

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

1993 • 1,128 citations

Defective lymphoid development in mice lacking expression of the common cytokine receptor γ chain

1995 • 1,024 citations

IMMUNOLOGICAL RECONSTITUTION OF SEX-LINKED LYMPHOPENIC IMMUNOLOGICAL DEFICIENCY

1968 • 1,011 citations

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

1994 • 1,008 citations

Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain.

1995 • 881 citations

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

1995 • 875 citations

BONE-MARROW TRANSPLANTATION IN A PATIENT WITH THE WISKOTT-ALDRICH SYNDROME

1968 • 873 citations

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

1992 • 835 citations

Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid Development

1995 • 800 citations

The role of shared receptor motifs and common stat proteins in the generation of cytokine pleiotropy and redundancy by IL-2, IL-4, IL-7, IL-13, and IL-15

1995 • 760 citations

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

1993 • 734 citations

Defective Lymphoid Development in Mice Lacking Jak3

1995 • 650 citations

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

1994 • 647 citations

Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells

1994 • 618 citations

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

1993 • 593 citations

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

1994 • 581 citations

Defects in B Lymphocyte Maturation and T Lymphocyte Activation in Mice Lacking Jak3

1995 • 551 citations

Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants

1997 • 543 citations

Developmental defects of lymphoid cells in Jak3 kinase-deficient mice

1995 • 493 citations

Tyrosine phosphorylation and activation of STAT5, STAT3, and Janus kinases by interleukins 2 and 15.

1995 • 397 citations

Jaks, STATs, Cytokine Signal Transduction, and Immunoregulation: Are We There Yet?

1997 • 381 citations

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

1994 • 342 citations

Treatment of X-Linked Severe Combined Immunodeficiency by in Utero Transplantation of Paternal Bone Marrow

1996 • 339 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

Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes.

1994 • 301 citations

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

1996 • 276 citations

Modulation of hematopoiesis in mice with a truncated mutant of the interleukin-2 receptor gamma chain

1996 • 268 citations

European experience of bone-marrow transplantation for severe combined immunodeficiency

1990 • 259 citations

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)

1996 • 242 citations

SH2 Signaling in a Lower Eukaryote: A STAT Protein That Regulates Stalk Cell Differentiation in Dictyostelium

1997 • 230 citations

Bcl-2 Rescues T Lymphopoiesis, but Not B or NK Cell Development, in Common γ Chain–Deficient Mice

1997 • 220 citations

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

1995 • 189 citations

Cloning and Functional Analysis of New Members of STAT Induced STAT Inhibitor (SSI) Family: SSI-2 and SSI-3

1997 • 169 citations

The Common Cytokine Receptor γ Chain Plays an Essential Role in Regulating Lymphoid Homeostasis

1997 • 168 citations

NATURALLY OCCURRING PRIMARY DEFICIENCIES OF THE IMMUNE SYSTEM

1997 • 159 citations

Mutation Analysis of IL2RG in Human X-Linked Severe Combined Immunodeficiency

1997 • 156 citations

The amino terminus of JAK3 is necessary and sufficient for binding to the common γ chain and confers the ability to transmit interleukin 2-mediated signals

1997 • 146 citations

JAK3: a novel JAK kinase associated with terminal differentiation of hematopoietic cells.

1994 • 145 citations

Role of the Common Cytokine Receptor γ Chain in Cytokine Signaling and Lymphoid Development

1995 • 143 citations

Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency

1997 • 140 citations

Signaling via IL-2 and IL-4 in JAK3-Deficient Severe Combined Immunodeficiency Lymphocytes: JAK3-Dependent and Independent Pathways

1996 • 129 citations

Regulation of JAK3 expression in human monocytes: phosphorylation in response to interleukins 2, 4, and 7.

1995 • 126 citations

Expression of Matrix Metalloproteinases and Tissue Inhibitors of Metalloproteinases in Reactive and Neoplastic Lymphoid Cells

1997 • 119 citations

Role of interleukin-2 (IL-2), IL-7, and IL-15 in natural killer cell differentiation from cord blood hematopoietic progenitor cells and from gamma c transduced severe combined immunodeficiency X1 bone marrow cells

1996 • 119 citations

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

1994 • 111 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

Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.

1995 • 94 citations

Peripheral Expression of Jak3 Is Required to Maintain T Lymphocyte Function

1997 • 89 citations

Characterization of the human interleukin-2 receptor gamma chain gene

1993 • 88 citations

Correction of interleukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the gamma-c gene

1996 • 88 citations

A novel X-linked combined immunodeficiency disease.

1990 • 86 citations

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

1996 • 82 citations

Retroviral-mediated gene correction for X-linked severe combined immunodeficiency

1996 • 78 citations

In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction.

1996 • 70 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

Crucial Role of Jak3 in Negative Selection of Self-reactive T Cells

1997 • 69 citations

A Membrane-Proximal Region of the Interleukin-2 Receptor γ_c Chain Sufficient for Jak Kinase Activation and Induction of Proliferation in T Cells

1996 • 69 citations

Growth Signal Transduction by the Human Interleukin-2 Receptor Requires Cytoplasmic Tyrosines of the β Chain and Non-tyrosine Residues of the γc Chain

1995 • 67 citations

A Kinase-deficient Splice Variant of the Human JAK3 Is Expressed in Hematopoietic and Epithelial Cancer Cells

1995 • 65 citations

The JAK-STAT pathway in Drosophila

1997 • 65 citations

Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency.

1993 • 57 citations

Genomic Sequence, Organization, and Chromosomal Localization of HumanJAK3

1996 • 55 citations

Genetic study of a new X-linked recessive immunodeficiency syndrome.

1992 • 51 citations

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

1995 • 45 citations

Human severe combined immunodeficiency disease: phenotypic and functional characteristics of peripheral B lymphocytes.

1990 • 43 citations

Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene

1996 • 42 citations

Development of Autologous, Oligoclonal, Poorly Functioning T Lymphocytes in a Patient With Autosomal Recessive Severe Combined Immunodeficiency Caused by Defects of the Jak3 Tyrosine Kinase

1998 • 38 citations

T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient

1996 • 37 citations

Interleukin-4 Signaling in B Lymphocytes from Patients with X-linked Severe Combined Immunodeficiency

1997 • 30 citations

STEM CELL TRANSPLANTATION FROM UNRELATED DONORS FOR CORRECTION OF PRIMARY IMMUNODEFICIENCIES

1996 • 17 citations

Postnatal development of T lymphocytes in a novel X-linked immunodeficiency disease

1992 • 14 citations

B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation

1997 • 14 citations

JAK3 Maps to Human Chromosome 19p12 within a Cluster of Proto-oncogenes and Transcription Factors

1997 • 13 citations

Variant forms of X-linked severe combined immunodeficiency disease: one or many genes?

1993 • 2 citations

The γc receptor is not necessary for NK cell development in XSCID patients

1997 • 1 citations