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

On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.
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PMID:Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. 153 8

We composed a model from autoimmune serologic findings, HLA antigens, and clinical findings that explains, at least partially, the clinical heterogeneity of 40 patients with systemic lupus erythematosus (SLE). In these patients, anti-RO (SS-A) was related to the HLA-DQ1/DQ2 heterozygotes, anti-La (SS-B) was related to HLA-B8 and HLA-DR3, and anti-nuclear RNP (Sm) was related to HLA-DR4. Lymphopenia was associated with anti-Ro (SS-A) and, secondarily, with anti-single-stranded DNA. Renal disease in these SLE patients was inversely associated with anti-La (SS-B) and was positively associated with anti-double-stranded DNA. There were no associations between the HLA antigens and these clinical manifestations. The results support a model of disease expression in which individuals are nonspecifically potentiated for SLE. Their HLA antigen composition influences the production of particular autoantibodies that are related in complex ways to the different particular clinical findings of SLE manifested in individual patients.
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PMID:A model for disease heterogeneity in systemic lupus erythematosus. Relationships between histocompatibility antigens, autoantibodies, and lymphopenia or renal disease. 278 39

Deficiency in zinc, an essential trace element, is a frequent human dietary problem in the United States and is also associated with such disease states as alcoholism, renal disease, burns, gastrointestinal tract disorders, and acrodermatitis enteropathica. Skin lesions and poor wound healing are observed in severe forms of the deficiency. However, modest deficits in zinc cause lymphopenia and reduced immune capacity among affected humans. With the mouse used as a model because it has an immune system analogues to that of humans, the effects of zinc deficiency on immune function have been well characterized. A suboptimal intake of zinc causes marked atrophy of the thymus, a 50% reduction in leukocytes, a rise in corticosterone levels, and a 40% to 70% reduction in antibody-mediated, cell-mediated, and delayed-type hypersensitivity responses.
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PMID:Zinc deficiency and immune function. 312 Jun 53

Abnormal lymphocyte function has been postulated to have a pathogenetic role in nephrotic syndrome. In an attempt to investigate the pathogenetic role of lymphocyte subsets in human glomerular disease, we studied 110 children suffering from nephritis during the acute nephrotic phase or nephritis without steroid treatment, 4 weeks later after steroid treatment, in remission and relapse. These patients included minimal change nephrotic syndrome (MCNS) 15 cases, focal segmental glomerular sclerosis (FGS) 6 cases, mesangial cell proliferative nephropathy (MesPGN) 42 cases, membranoproliferative glomerulonephritis (MPGN) 2 cases, hepatitis B surface antigenemia associated with membranous nephropathy (HBVMN) 10 cases, IgA mesangial nephropathy (IgAN) without nephrotic syndrome 7 cases, poststreptococcal glomerulonephritis (PSGN) 24 cases and chronic glomerulonephritis (CGN) 4 cases. There was no significant difference in the total lymphocyte count of each different pathological group of nephritis except that lymphopenia was noted in the CGN patients. When the lymphocyte phenotypic profile was examined, OKT8 cells were significantly increased in the MesPGN patients and both OKT4 and OKT8 cells were significantly increased in HBVMN. Comparison of MCNS and MesPGN during the acute nephrotic phase showed the OKT4/OKT8 ratio decreased significantly in MesPGN. Four weeks after steroid treatment, OKT4 cells decreased both in MCNS and MesPGN being pronounced in MCNS. In the remission stage with steroid treatment the OKT4/OKT8 ratio decreased in MCNS and was mildly elevated in MesPGN. In relapse, the OKT4/OKT8 ratio was the same as it was during the onset of nephrotic phase. MCNS cases were steroid responsive whereas in MesPGN there were frequent relapses or partial steroid response.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:T cell subsets in glomerulonephritis. 348 14

The historic, physical, laboratory, and histologic findings for 74 cats with chronic renal disease were reviewed. Most cats were older, and no breed or sex predilection was detected. This most common clinical signs detected by owners were lethargy, anorexia, and weight loss. Dehydration and emaciation were common physical examination findings. Common laboratory findings were nonregenerative anemia, lymphopenia, azotemia, hypercholesterolemia, metabolic acidosis, hyperphosphatemia, and isosthenuria. The most common morphologic diagnosis was chronic tubulointerstitial nephritis of unknown cause. The other pathologic diagnoses were renal lymphosarcoma, renal amyloidosis, chronic pyelonephritis, chronic glomerulonephritis, polycystic renal disease, and pyogranulomatous nephritis secondary to feline infectious peritonitis.
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PMID:Clinicopathologic findings associated with chronic renal disease in cats: 74 cases (1973-1984). 358 99

Cyclophosphamide is widely used to induce a remission of minimal-change nephropathy, but concerns have been raised about whether its effects on cellular immunity persist after treatment is discontinued. We studied functional and numerical measures of cellular immunity in children who had minimal-change nephropathy with frequent steroid-responsive relapses and were receiving cyclophosphamide (2.5 mg per kilogram of body weight per day for eight weeks). Sequential studies during such treatment showed that cyclophosphamide caused lymphopenia, particularly among T helper cells, resulting in a significant fall in the immunoregulatory (helper/suppressor) cell ratio. This change persisted 1 to 3 months after cyclophosphamide was discontinued, but measures of immune function reverted to normal after 6 to 12 months. Children with minimal-change nephropathy in long-term remission had no difference in T-cell subpopulations, lymphocyte responses to mitogens, or suppressor-cell function that could be attributed to the disease itself or to the previous use of cyclophosphamide.
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PMID:Modulation of cellular immune function by cyclophosphamide in children with minimal-change nephropathy. 622 99

Thirty-seven cases of canine hypoadrenocorticism were compared with 39 previously reported cases. The 2 series were compared because it was believed that a study of 37 consecutive cases diagnosed at 1 institution (Michigan State University) and compiled by 1 group of veterinarians would yield data that were more representative of the disease than multiple cases from various institutions. Age, sex, and breed data were similar in both series. The frequency of anorexia, vomiting, depression, and the mean values for the clinicopathologic data were similar for both series except for blood glucose concentration (P less than 0.025). The Michigan State University series was different in that it had a lower frequency of eunatremia, increased plasma total solids, and hypoglycemia but a higher frequency of lymphocytosis, lymphopenia, hyponatremia, hyperglycemia, and hypercalcemia. Further, 3 dogs in the Michigan State University series had azotemia plus near isosthenuric urine, suggesting renal disease, but they seemingly responded to therapy for hypoadrenocorticism. Only 1 such case was identified in the literature. Finally, we detected fewer instances of P waves not being evident in lead II of an electrocardiogram.
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PMID:Canine hypoadrenocorticism: report of 37 cases and review of 39 previously reported cases. 703 23

One hundred twenty-seven biopsy specimens from clinically normal light-protected skin of 88 patients with active and inactive lupus erythematosus (LE) were examined for deposits of IgG, IgM, IgA, and C3 at the dermal-epidermal junction (DEJ). Deposits were found in 91% of those with active disease and in 33% of those with inactive disease. The finding of such deposits reflected active disease just as did a decrease in serum C3 and C4 levels, elevated anti-double-stranded DNA, the presence of LE cells, lymphopenia, and an elevation of the ESR. The presence or absence of deposits in repeated biopsy specimens indicated changing disease activity, as estimated clinically, just as did changes in the other variables mentioned. Neither immunoreactants in skin nor any other laboratory abnormality reflected renal disease or other type of organ involvement. Deposits of IgG were not more commonly found in patients with renal disease.
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PMID:The lupus band test as a measure of disease activity in systemic lupus erythematosus. 710 27

There is evidence suggesting that clinical manifestations and severity in systemic lupus erythematosus (SLE) are associated with age, sex and ethnicity. The influence of genetic factors, particularly HLA antigens, on disease expression is revealed by the diversity of clinical conditions in patients from different ethnic groups. The aim of this work was to analyze the impact of demographic factors on SLE expression in the Spanish population. Therefore, a retrospective analysis was undertaken of clinical records of 307 patients diagnosed in three Rheumatology Services, with a mean follow-up of 79 months. The distribution of clinical manifestations according to age and sex was studied and compared with those observed in other ethnic groups. The results show the influence of sex and age on our patient population. Thus, female had a higher frequency of malar rash, photosensitivity and lymphopenia. Males had a higher CNS and renal involvement. Patients under 15 years had a higher involvement of CNS and kidney. Patients under 15 years had a higher frequency of nephropathy, hematological, cutaneous and CNS changes. Patients older than 50 had a higher frequency of pleuropericarditis, but without renal involvement. Our ethnic group expressed a disease with a severity similar to that observed in north-european caucasians, higher than in north-american caucasians and lower than in south-american caucasians, asiatic and africans. In conclusion, patients with SLE from the south-european ethnic groups express a clinical picture with characteristics and severity similar to those observed in europeans from other latitudes and different from those reported in other ethnic groups.
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PMID:[Clinical and serological manifestations of 307 Spanish patients with systemic lupus erythematosus. Comparison with other ethnic groups]. 756 99

Most examples of cell death in animals are controlled by a genetic program that is activated within the dying cell. The apoptotic process is further regulated by a set of genes that act as repressors of cell death. Of these, bcl-2 is expressed in a variety of embryonic and postnatal tissues which suggests a critical role for bcl-2 in organogenesis and tissue homeostasis. Surprisingly, mutant mice with targeted disruption of bcl-2 appear normal at birth and complete maturation of lymphoid tissues before succumbing to fulminant lymphopenia and polycystic renal disease by 2-5 weeks of age. This suggests that there may be genes other than bcl-2 that can regulate apoptosis during development. To begin to investigate this possibility, we have cloned and characterized the murine bcl-x gene, whose human counterpart displays striking homology to bcl-2. The predicted murine bcl-xL gene product exhibits a high level of amino acid identity (97%) to its human counterpart. Just like Bcl-2, the murine bcl-xL gene product can act as a dominant inhibitor of cell death upon growth factor withdrawal. In addition, the bulk of the bcl-xL product localizes to the periphery of mitochondria as assessed by a bcl-xL-tag expression system, suggesting that both Bcl-2 and Bcl-xL proteins prevent cell death by a similar mechanism. bcl-xL is the most abundant bcl-x mRNA species expressed in embryonic and adult tissues. The levels of bcl-xL mRNA appear higher than those of bcl-2 during embryonal development and in several adult organs including bone marrow, brain, kidney and thymus. In addition to bcl-xL, we have identified another form of bcl-x mRNA, bcl-x beta, that results from an unspliced bcl-x transcript. bcl-x beta mRNA is expressed in various embryonic and postnatal tissues. Surprisingly, the expression of bcl-xS (a negative regulator of programmed cell death) was undetectable by a sensitive S1-nuclease assay and polymerase chain reaction analysis of mouse tissues. Based on its tissue and developmental patterns of expression, it appears that bcl-x may play an important role in the regulation of cell death during development and tissue homeostasis.
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PMID:bcl-XL is the major bcl-x mRNA form expressed during murine development and its product localizes to mitochondria. 760 90


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