Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A cellular immunodeficiency was revealed in a 39-year-old female patient suffering from Werner's syndrome. Relevant findings were negative intracutaneous tests to candidin, trichophytin, tuberculin and bacterial antigens, reduced lymphocyte response to PHA, and impaired intracellular killing of Candida albicans by granulocytes. The inclination of patients suffering from Werner's syndrome to develop neoplasms may be related to this immunodeficiency.
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PMID:Altered cellular immunity in Werner's syndrome. 699 96

The immunocapacity of a 28-year-old mentally retarded proband and her clinically normal mother and sister, all having a deletion of the short arm of one of the X-chromosomes [46, X, del (X) (pter to 22: :p11 to qter)], was evaluated. The concentrations of immunoglobulin IgA (0 . 4 g/l), IgG (4 . 4 g/l) and IgM (0 . 2 g/l) were low in the proband. The serum IgA (0 . 9 g/l) concentration of her mother was also at the lower normal limit. The serum concentration of complement component C4 was low both in the proband (0 . 17g/l) and in her mother (0 . 18 g/l). Phagocytosis and killing of bacteria by granulocytes were normal in all of them. However, the chemotactic response of granulocytes was at the lower normal level in the patient. The in vitro responses of peripheral blood lymphocytes to the polyclonal T-clonal mitogens, PHA and Con A, were about half normal in the patient and were also decreased in her mother. The response was also decreased against PWM, to about one-sixth of the normal value in the patient and to one-half in her mother. The Con A response was decreased in the sister, while her PHA and PWM responses were normal. In contrast to these findings, the responses against the antigen-specific stimulators, PPD and oidiomycin, were normal in all subjects. Natural killer cell activity against the K-562 cell line was decreased in the patient but normal in her mother and sister. The number of B cells was at the normal limit in all subjects. The amount of E rosette-forming T lymphocytes was normal but the amount of ANAE-positive cells was decreased, especially in the proband (31%). Our results describe a new human immunodeficiency state, probably associated with X-chromosome deletion. We suggest that the short arm of the X-chromosome exerts its effect on regulatory T cells. Whether the humoral defect is connected with suppressor T cells remains to be established.
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PMID:Immunodeficiency associated with a deletion in the short arm of the X-chromosome. 730 43

In this report, we present a 5 months old male baby, who suffered from watery diarrhea since 4 days old. From then on, he had been admitted 3 times in 3 different hospitals but the symptoms still bothered him off and on. During the days of hospitalization, sepsis with positive blood culture of Klebsiella was noted. The patient expired at 5 months of age. The T cell count was 20% active T was 0. Delayed hypersensitivity skin tests including Candida (10 X), PHA (10 micrograms), PHA (1 microgram), SK/SD (50 units) were negative. The granulocyte function study showed normal. Immunoglobulin analysis revealed IgG: 1320 mg%, IgA: 120 mg%, IgM: 100 mg%. Agenesis of thymus, failure of lymphoid differentiation and abnormal lymphoid architecture with absence of germinal centers were noted at autopsy. Combined immunodeficiency with normal immunoglobulins (Nezelof syndrome) is a disease of primary immunodeficiency characterized by recurrent infections, failure to thrive, lymphopenia, diminished lymphoid tissue, abnormal structure or agenesis of the thymus, and presence of normal or increased levels of one or more of the major immunoglobulin classes, but with impaired antibody synthesis. Since its original description by Nezelof and associates in 1964, it has been reported on the subsequent occasion. In this report, we present our one experience and review the clinical and laboratory data in 33 reported cases.
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PMID:Report of a case of Nezelof syndrome. 744 23

Patterns of cytokine expression were analyzed in polyclonal and antigenic responses in children with perinatal HIV infection. Responses of PBL to PMA and A23187 calcium ionophore studied in patients in different stages of HIV infection revealed reduced levels of IL-2 in HIV-infected children beginning before 6 mo of age, and age-dependent increases in expression of IL-4, IL-10, and IFN-gamma. The levels of IL-4, IL-10, and IFN-gamma expression did not differ significantly between HIV-infected and age-matched uninfected children of HIV-seropositive mothers, except for a small reduction in HIV-infected children in late stages of infection. Responses to PHA, HLA alloantigens, HIV envelope peptides T1 and P18, and tetanus toxoid were studied in PBMC derived from asymptomatic and mildly symptomatic HIV-infected children. IL-2, IFN-gamma, IL-4, and IL-5 expression was detected in PHA-stimulated PBMC from all analyzed patients. HIV-infected children who failed to respond to HLA alloantigens, tetanus toxoid, or the envelope peptides had lower numbers of CD4+ cells and expressed, on PHA stimulation, higher levels of IL-4 and IL-5 and lower levels of IL-2 and IFN-gamma than patients who responded to the antigenic stimulation. Results of these analyses suggest that cytokine expression in HIV-infected children depends on the character of the stimuli as well as the phenotype of PBMC, and indicate possible prevalence of Th2 Ag-specific responses during the progression of HIV-induced immunodeficiency.
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PMID:Cytokine patterns during progression to AIDS in children with perinatal HIV infection. 756 Nov 17

The ICF syndrome is a rare disorder where patients show undercondensation of the heterochromatic blocks of chromosomes 1, 9, and 16 along with variable immunodeficiency. The undercondensation of the heterochromatic block appears to be restricted to a portion of PHA stimulated T cells. Patients with this syndrome also show an increase in micronuclei formation. We have used dual colour FISH to investigate the chromosomal content of these micronuclei in PHA stimulated peripheral blood cultures, an EBV transformed B cell line, and also micronuclei observed in vivo from peripheral blood smears. Chromosome 1 appears to be present in a higher proportion of micronuclei compared to chromosomes 9 and 16 in both a PHA stimulated culture and an EBV transformed cell line. An 18 centromeric probe, not associated with the ICF syndrome, showed no signal in any of the micronuclei observed. The implications from these observations are that the heterochromatic instability in the ICF syndrome is manifested not only in T but also in B cells and that it is present in vivo.
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PMID:FISH analysis on spontaneously arising micronuclei in the ICF syndrome. 756 60

Peripheral blood T lymphocytes from 15 patients with gastric carcinoma and 6 normal healthy controls were evaluated for Interleukin-2 R gene expression. Total RNA was extracted from T cell-enriched fractions of patients as well as from control peripheral blood lymphocytes, with or without mitogenic stimulation. The presence of mRNA for IL-2 R alpha evaluated by Northern blot analysis revealed that unstimulated T cells expressed lower levels of IL-2 R mRNA than PHA stimulated T cells. Expression of both IL-2 R alpha transcripts (3.5 and 1.5 Kb) were either not detectable or only weakly detectable on T lymphocytes from patients even after mitogenic stimulation. In contrast, a significant rise in the expression of both IL-2 R alpha transcripts was observed on T cells from normal controls followed by mitogenic challenge. This paper reports on the defective IL-2 R alpha gene expression in gastric carcinoma patients, which may explain one of the causes of immunodeficiency associated with neoplastic transformation and progression.
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PMID:Defective interleukin-2 R gene expression in gastric carcinoma patients. 762 94

It is not known whether impaired hematopoiesis noted during human immunodeficiency virus (HIV) infection results from infection of stem/progenitor cells or of cells of the bone marrow microenvironment. Normal adherent primary stromal layers were exposed to HIV to determine which of this mixture of endothelial cells, fibroblasts, and macrophages are susceptible to the virus. Viral p24 in supernatants was noted with monocytotropic HIV-1Ada, HIV-1Ba-L, and HIV-1JR-FL but not with lymphotropic HIV-1LAI nor HIV-1MN strain, and only stromal macrophages expressed the viral antigens. Coculture of the layers with PHA-activated normal lymphocytes failed to rescue lymphotropic virus. No p24 was produced when macrophage-depleted stromal cells were exposed to either HIV-1Ba-L or HIV-1LAI; proviral DNA was then amplified by PCR in cells exposed to either virus, though coculture with lymphocytes rescued only HIV-1Ba-L. Altogether, these data indicate that macrophages are the major targets of HIV in cultured stromal layers. As virus replication in macrophages did not affect the profile of major cytokines involved in regulating hematopoiesis, HIV infection could alter hematopoiesis by other as yet unspecified mechanisms.
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PMID:Susceptibility of human bone marrow stromal cells to human immunodeficiency virus (HIV). 774 51

We studied the changes in peripheral lymphocyte subsets, mitogen responsiveness, natural killer (NK) cell activity, and interleukin-2 (IL-2) production in patients with or without diabetes receiving coronary artery bypass surgery. Group I (GI): 9 diabetic patients comprising three on oral diabetics during therapy, two on insulin therapy, and four on alimentary therapy. Group II (GII): 12 non-diabetic patients (borderline diabetics excluded). age, amount of blood transfusion, number of grafts, aortic cross-clamp time (ACC), cardio-pulmonary bypass time (CPB), and operative time (OP) did not significantly differ between the groups. Lymphocyte subsets were measured using monoclonal antibodies and IL-2 production was measured by radio-immuno assay using IL-2 labeled with I125. All variables were measured the day before, the day after, 3 days after and 7 days after the operation. The number of lymphocytes and their subsets (CD3+, CD+, CD8+, 4/8 ratio, IL-2R+) did not significantly differ between the groups, but in GI patients, the number of OKIa1 positive lymphocytes were significantly lower than in GII the day before and 7 days after the operation. II-2 production on the day after the operation was significantly (p < 0.05) reduced from the preoperative level in both groups. On 3 days, there was a significant difference (p < 0.05) between the two groups: IL-2 production in GI (3.1 +/- 2.6 U) was remarkably lower than in GII (6.6 +/- 4.0 U). IL-2 production in GII was significantly correlated to the number of CD4 positive lymphocytes, but this was not true in GI. Mitogen responsiveness to stimulation with PHA was not significantly different between the groups. NK cell activity on the first postoperative day was significantly reduced (p < 0.01) in the both groups, but there was no difference between the groups. The % change in IL-2 production (%IL-2) in GII on 3 days after the operation was significantly correlated to the amount of blood transfusion (r = -0.7, p = 0.0077) but that in GI was not. %IL-2 was not significantly correlated to ACC, CPB, OP, or age in both groups. This study clearly showed that diabetics who underwent coronary artery bypass surgery suffered depression of cellular immunity, in particular, IL-2 production, which might be a key factor in cellular immunity. It showed a decrease in helper T lymphocyte function after surgery, implying postoperative immunodeficiency in diabetics.
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PMID:[Reduction in cellular immunity in diabetics receiving coronary artery bypass grafting]. 779 3

The activity of pidotimod ((R)-3-[(S)-(5-oxo2-pyrrolidinyl) carbonyl]-thiazolidine-4-carboxylic acid, PGT/1A, CAS 121808-62-6) on immunological parameters was evaluated in a double-blind trial, involving two Research Centres. 16 patients with a primary or metastatic neoplasm, 16 elderly patients under immunodeficiency conditions and 11 healthy volunteers were enrolled in the present study. The patients, randomized within each centre, were assigned to one of the following treatments lasting 15 days: one vial i.m. of pidotimod 50 mg, 100 mg, 200 mg twice a day, respectively; one vial i.m. of physiological saline twice a day. The lymphocyte PHA-stimulation test evidenced a significant variability due to the different treatment groups (p = 0.004). The analysis of the stimulation index (SI), computed from the mean c.p.m. before and after PHA-stimulation, showed a significant difference, dose-independent, between saline and active treatment (p = 0.002). The SI analysis, on the basis of the data of the allogenic stimulation test (mixed lymphocyte culture), confirmed the difference between saline and active treatment (p = 0.05) with a significant linear component in the time-effect curve (p = 0.001) but not in the dose-effect curve. A 12% increase in CD 3 lymphocytes compartment was observed with pidotimod 400 mg/day. The drug was well tolerated by all the patients included in the study.
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PMID:Ex vivo evaluation of pidotimod activity on cell-mediated immunity. 785 46

Selective IgA deficiency is the most common primary immunodeficiency. Two types of selective IgA deficiency may be distinguished: the complete form, with IgA level less than 5 mg/dl, and the partial IgA deficiency, with level greater than 5 mg/dl but less than 2 standard deviations below the age-adjusted mean level; 50% of the cases belong to the partial type and half of them may be considered as transient clinical form. Patterns of this condition, are very unsteady: while some patients remain without any symptoms, others present recurrent respiratory and gastrointestinal tract infections. Though respiratory tract infections are the most frequent diseases, and in very few patients are associated bronchiectasis. A twelve-year-old patient with permanent partial IgA deficiency was treated for bronchiectasis in our pneumology and allergy pediatric center. The other serum immunoglobulins, IgG subclass, lymphocytes sub-populations, cell with expression of DR markers and proliferative response to PHA of peripheral blood lymphocytes, were normal. The alpha-1-antitrypsin, Mantoux test (negative), sweat chloride concentration and ciliated nasal epithelium were also normal. Pneumonia, bronchiectasis and meningitis are found in the complete IgA deficiency. The greater part of studies confirm that this severe, chronic and/or recurrent lower respiratory tract diseases are scarcely found in children with partial selective IgA deficiency, although our case states that it can be found. We think that in every patient with bronchiectasis the selective IgA deficiency complete or partial, has to be considered as an isolated etiologic factor.
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PMID:Selective and partial IgA deficiency in an adolescent male with bronchiectasis. 789 14


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