Severe combined immunodeficiency

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Severe combined immunodeficiency

Abstract

References

Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development

Defective lymphoid development in mice lacking Jak3

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

Interleukin-9 induces tyrosine phosphorylation of insulin receptor substrate-1 via JAK tyrosine kinases.

A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells.

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

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

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

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

JAK3 Janus kinase is involved in interleukin 7 signal pathway

Prevention of T cell anergy by signaling through the gamma c chain of the IL-2 receptor

Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID

Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits

Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2

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

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

The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor gamma chain as a common gamma chain, gamma c

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

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

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

Expression of Janus kinase 3 in human endothelial and other non-lymphoid and non-myeloid cells.

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

Developmental defects of lymphoid cells in Jak3 kinase-deficient mice

Interleukin 7 independent development of human B cells

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

Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways.

Crucial role of Jak3 in negative selection of self-reactive T cells

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

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

Jaks, STATs, cytokine signal transduction, and immunoregulation: are we there yet?

Distinct tyrosine phosphorylation sites in JAK3 kinase domain positively and negatively regulate its enzymatic activity

Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer

Jaks and STATs: biological implications

Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.

Virus-specific immunity after gene therapy in a murine model of severe combined immunodeficiency

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency

Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain

Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation: a retrospective European survey from the European group for bone marrow transplantation and the european society for immunodeficiency

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