Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024312 (lymphopenia)
 4,859 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the unusual case of 16-year-old girl who developed intractable convulsions five days after the onset of a cold. Meningeal signs, lymphopenia, proteinuria, and lupus anticoagulant were also present. Treatment with anticonvulsants, antituberculous agents, and adenine arabinoside were ineffective. The initiation of methylprednisolone pulse therapy immediately resolved convulsions and fever. The diagnosis, suggested by the clinical course and the marked improvement of the meningoencephalitis by pulse therapy, was an encephalitic form of acute disseminated encephalomyelitis. Clinical and laboratory findings indicated that an immune disorder may have triggered an abnormal response to a viral infection leading to this patient's neurologic disorder.
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PMID:Patient with both lupus anticoagulant and acute disseminated encephalomyelitis. 889 67

CVID is a primary immune disorder in which hypogammaglobulinaemia may be associated with a number of T cell defects including lymphopenia, anergy, impaired lymphocyte proliferation and deficient cytokine secretion. In this study we show that T cells of CVID subjects, in comparison with control T cells, undergo spontaneous apoptosis in culture and markedly accelerated apoptosis after gamma-irradiation. Although costimulation of the CD28 receptor following engagement of the TCR/CD3 receptor normally provides a second signal necessary for IL-2 secretion, CD28 costimulation in CVID does not significantly increase IL-2 production, nor does this combination of activators enhance the survival of irradiated CVID T cells, as it does for cultured normal T cells. Addition of IL-2 enhances CVID T cell survival, suggesting that the IL-2 signalling pathways are normal. CVID T cells have similar expression of Bcl-2 to control T cells. CD3 stimulation up-regulates T cell expression of bcl-xL mRNA for normal T cells, but anti-CD28 does not augment bcl-xL expression for CVID subjects with accelerated apoptosis. Defects of the CD28 receptor pathway, leading to cytokine deprivation and dysregulation of bcl-xL, could lead to poor T cell viability and some of the cellular defects observed in CVID.
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PMID:Enhanced apoptosis of T cells in common variable immunodeficiency (CVID): role of defective CD28 co-stimulation. 1084 30

Severe combined immunodeficiency (SCID) is an inherited immune disorder characterized by T-cell lymphopenia (TCLP), a profound lack of cellular (T-cell) and humoral (B-cell) immunity and, in some cases, decreased NK-cell number and function. Affected children develop severe bacterial and viral infections within the first 6 months of life and die before 1 year of age without treatment. Mutations in any of eight known genes: IL2RG, ARTEMIS, RAG1, RAG2, ADA, CD45, JAK3, and IL7R cause SCID. Mutations in unidentified genes may also cause SCID. Population-based genotype and allelic frequencies of these gene defects have not been measured. Some minimal estimates of SCID prevalence are presented. Currently, hematopoietic stem cell transplants are the standard treatment. In clinical trials, gene therapy has been used to reconstitute immune function in patients with IL2RG and ADA defects. The availability of effective therapies, plus the short asymptomatic period after birth, (when stem-cell transplantation is most effective), make SCID a potentially good candidate for newborn screening. Dried blood spots are currently collected from all infants at birth for newborn metabolic screening. Tests for TCLP on dried blood spots could be developed as a screen for SCID. Because SCID may be unrecognized, with infant deaths from infection attributed to other causes, newborn screening is the only way to ascertain true birth prevalence. Validated tests and pilot population studies are necessary to determine newborn screening's potential for identifying infants with SCID.
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PMID:Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. 1472 5

Syngeneic bone marrow transplantation (syn-BMT), as a novel therapy for type 1 diabetes (T1D), has been used more and more widely. This study was aimed to detect the changes of peripheral CD4(+) T lymphocytes, CD8(+) T lymphocytes, CD4(+)/CD8(+) T lymphocytes and NK cells before and after T1D mice were treated with syn-BMT, and to investigate the effects of these cells in T1D and the effects of syn-BMT-inducing immunotolerance. T1D mouse model was established by multiple low dose streptozotocin injection, the syn-BMT was performed on 10 day after the onset of diabetes. The T1D model mice were divided into group of diabetic mice treated with syn-BMT and group of diabetic control mice (DC), 6 normal C57BL/6J mice were regarded as normal control group (NC). On 30 day after syn-BMT, peripheral proportion of CD4(+) T lymphocytes, CD8(+) T lymphocytes, CD4(+)/CD8(+) T lymphocytes and NK cells were detected by flow cytometry. These cells of normal control mice (NC), diabetes control mice (DC) and diabetes mice treated by syn-BMT were also detected. Blood glucose level in three groups was assayed during the whole observation period. The results showed that syn-BMT could reduce blood glucose level of T1D mice to near normal (p > 0.05). Hematopoietic reconstitution happened in a month. The proportion of peripheral CD4(+) T lymphocytes, CD4(+)/CD8(+) T lymphocytes, NK cells all increased in new-onset diabetic mice (p < 0.01), while the proportion of peripheral CD8(+) T lymphocytes decreased (p < 0.01). On 30 day after T1D mice were treated with syn-BMT, the proportion of peripheral CD4(+) T lymphocytes was significantly lower than that in DC mice (p < 0.01), but still higher than NC (p < 0.05). The proportion of CD8(+) T lymphocytes was higher than that in DC and NC mice (p < 0.01). The ratio of CD4(+)/CD8(+) T lymphocytes and proportion of NK cells were both obviously lower than that in DC and NC mice (p < 0.01). It is concluded that the syn-BMT can reverse hyperglycemia and immune disorder in diabetic mice. On early period of diabetes onset, the proportions of CD4(+) T lymphocytes and NK cells, the ratio of CD4(+)/CD8(+) T lymphocytes increase, while proportion of CD8(+) T lymphocytes decreases in peripheral blood which mye be associated with onset of diabetes.
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PMID:[Immune changes in type 1 diabetes animal model after syngeneic bone marrow transplantation]. 2056 38

Tregs are involved in immune disorder during sepsis; they can lead to a Th2 immune reaction. Their inhibitory effects can help alleviate inflammatory injury, but may also cause secondary immune inhibition. Thymosin-alpha1 is a polypeptide with powerful immunomodulatory activities. Current reports have shown that Thymosin-alpha1 conferred beneficial effects to septic patients. To explore the relationship between Thymosin-alpha1 and Tregs, in this study, we investigated the changing trend in CD4(+)CD25(+)Foxp3(+) T lymphocytes in a CLP septic mouse model. We also investigated the variation of apoptotic rate of CD4(+)CD25(+) T lymphocytes, cytokine variation, and change of model survival rate when Thymosin-alpha1 intervening or not. We observed that the 72-h survival rate was improved, the percentage of CD4(+)CD25(+)Foxp3(+) T lymphocytes decreased and the apoptosis rate of CD4(+)CD25(+) T lymphocytes increased after intervention of Thymosin-alpha1. At same time the expression of pro-inflammation cytokines IL-2, TNF-alpha and anti-inflammatory cytokines IL-10 and TGF-beta were regulated. In conclusion, Thymosin-alpha1 can effectively control the inflammatory response intensity and improve the 72-h survival rate of septic mice. Regulating Tregs may be another important role of Thymosin-alpha1 conditioning the immune reaction in sepsis.
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PMID:Thymosin-alpha1 promotes the apoptosis of regulatory T cells and survival rate in septic mice. 2162 17