Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P14784 (IL-2 receptor)
 3,849 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cutaneous T-cell lymphoma and leukemias (CTCL) are malignant clonal proliferation of T lymphocytes which have a predilection to home to and proliferate in skin. There are no clinical and laboratory parameters which consistently correlate with stage of disease, which varies from patch, plaque, tumor, or erythroderma. Soluble IL-2 receptor (sIL2-R) levels are elevated both in benign and malignant diseases involving immune activation. Proliferation cell nuclear antigen (PCNA) is a marker of the G1 and G/S phases of cell cycle and can be used to quantitate proliferation. We studied 43 skin biopsies of CTCL in various clinical stages for the presence of PCNA via immunoperoxidase techniques to establish a relationship between PCNA and the stage of disease. In addition, sIL2-R levels were determined in 14 patients. PCNA reactivity was detected in the nuclei of infiltrating cells in a total of 25 patients (58%). According to clinical stage there were 2/12 patch (12%), 9/17 plaque (53%), 4/4 tumor (100%) and 9/10 erythrodermic (90%) stage patients with PCNA positive cells. Thus PCNA positivity correlated with advanced clinical stage. sIL2-R levels were elevated in 14 of 14 patients and the degree of elevation correlated with advanced clinical stage of disease and with increased numbers of PCNA positive cells. Immunohistochemical studies for PCNA and serum sIL2-R levels can be used as laboratory parameters to correlate with clinical stage of disease and enhance prognostication in CTCL.
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PMID:Proliferation cell nuclear antigen and soluble interleukin 2 receptor levels in cutaneous T cell lymphoma: correlation with advanced clinical diseases. 794 87

Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodeficiency (SCID). Similar to other patients with SCID, patients with OS present early in infancy with viral or fungal pneumonitis, chronic diarrhea, and failure to thrive. Unlike typical SCID, patients with OS have enlarged lymphoid tissue, severe erythroderma, increased IgE levels, and eosinophilia. The inflammation observed in these patients is believed to be triggered by clonally expanded T cells, which are predominantly of the T(H)2 type. These abnormal T cells, in the absence of proper regulation by other components of the immune system, secrete a host of cytokines that promote autoimmune as well as allergic inflammation. The emergence of these T-cell clones occurs in patients with hypomorphic mutations in recombination activating gene 1 or 2, but not in patients with deleterious mutations in these enzymes which render them inactive. Recently, OS was also identified in a growing list of other leaky SCIDs with mutations in RNA component of mitochondrial RNA processing endoribonuclease, adenosine deaminase, IL-2 receptor gamma, IL-7 receptor alpha, ARTEMIS, and DNA ligase 4. This new information revealed OS is a distinct inflammatory process that can be associated with genetically diverse leaky SCIDS.
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PMID:Omenn syndrome: inflammation in leaky severe combined immunodeficiency. 1899 30