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combined immunodeficiency
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IL2RG
Human immunodeficiency virus type 1 envelope glycoprotein gp120 produces immune defects in CD4+ T lymphocytes by inhibiting interleukin 2 mRNA
Lymphocyte activation by HIV-1 envelope glycoprotein
Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis
ADA
Purification and subunit structure of adenosine deaminase from human kidney
Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency
Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity
Diagnostic value of adenosine deaminase in nontuberculous lymphocytic pleural effusions
[Adenosine deaminase. A pluridisciplinary enzyme]
IL2
Aldesleukin (recombinant interleukin-2)
NHEJ1
Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity
Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends
Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4
LIG4
XRCC4 and XLF form long helical protein filaments suitable for DNA end protection and alignment to facilitate DNA double strand break repair
Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination
DNA ligase IV from HeLa cell nuclei
DCLRE1C
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families
PTPRC
Multiple components of the B cell antigen receptor complex associate with the protein tyrosine phosphatase, CD45
CD45-associated kinase activity requires lck but not T cell receptor expression in the Jurkat T cell line
IL7R
Cloning of the human and murine interleukin-7 receptors: demonstration of a soluble form and homology to a new receptor superfamily
Cancer Gene Census
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PTPRC
Somatic tumors
T-ALL
Tumor types germline
Cancer Syndrom
Translocation partner
Name
protein tyrosine phosphatase, receptor type, C
Chromosome banding
1q31-q32
Cancer molecular gen.
Rec
Mutation type
Mis, N, S
Other syndrome disease
Definition
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Pathways
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Phosphorylation of CD3 and TCR zeta chains
species not specified
one gene
Sema4D in semaphorin signaling
species not specified
one gene
Clinical Trials
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External
Immunotherapy Using Tumor Infiltrating Lymphocytes for Patients With Metastatic Cancer
Administration of Autologous T-Cells Genetically Engineered to Express T-Cell Receptors Reactive Against Mutated Neoantigens in People With Metastatic Cancer
211^At-BC8-B10 Before Donor Stem Cell Transplant in Treating Patients With High-Risk Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, or Myelodysplastic Syndrome
Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products