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)

Seventy-five patients with multiple sclerosis (MS) were treated for complement components C3, after factor B, C4, and tested for HLA-A and B-determinants. Levels of IgG, IgA, IgD, IgE and titres of measles antibodies were also determined. Correlations between these immunological values and HLA determinants could be obtained in siblings, parents and/or children of the patients in 13 families. B18 frequency is strongly associated with the hypocomplementaemic group (x2 = 8.9). An association of B18 with the population of cases with low B levels is also found (x2 = 8.02). Familial data showed that low C3 and/or low B levels are associated with the HLA haplotyes, especially with those containing B18. A "complement abnormality susceptibility gene", linked to the HLA genes, is postulated. Infections are significantly more frequent in families of hypocomplementaemic MS, the existence of a genetic immunodeficiency affecting the synthesis of the complement components, linked to the HLA determinants. In 1 case studied in this article, a heterozygous C2 deficiency linked to HLA-A10, B18 was found and might confirm this hypothesis.
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PMID:Hypocomplementaemic and normocomplementaemic multiple sclerosis. Genetic determinism and association with specific HLA determinants (B18 and B7). 88 65

Seven of 500 children with acute leukaemia seen over a 15-year period were known to have a close relative with leukaemia or lymphoma. In each case the affected relative was a grandparent of the child, six of the seven being paternal grandparents. Investigation of thses six families showed that the fathers, who had two affected first-degree relatives, had lower lymphocyte counts and higher serum IgA concentrations than paired controls. Atopy, repeated infections and rheumatic disease were common amongst the parents and their sibs. The findings suggest a possible immunodeficiency basis for leukaemia in these families and perhaps also for acute lymphoblastic leukaemia of childhood in general. In the only family in which three generations, including both leukaemic patients, were available for HL-A typing, the affected grandson had not inherited either of his affected grandmother's haplotypes.
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PMID:Leukaemia in children and their grandparents: studies of immune function in six families. 105 72

The authors describe two siblings affected by an immunodeficiency state characterized by low IgA and IgM levels in serum, and an early encephalopathy with infantile spasms and hypsarrhythmia. The nosography of this unusual association and the relationship to ataxia telangiectasia and allied disorders are briefly discussed.
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PMID:Primary immunodeficiency with early encephalopathy in two siblings. An anatomo-clinical study. 108 Apr 62

In 1963, Rosen and Bougas reported the case of a woman with recurrent infection, marked elevation of 19S, and virtual absence of 7S gamma globulin. Recently, members of her family were found to have similar abnormalities: Ten of the 37 family members tested had elevated levels of serum IgM accompanied by a combined deficiency of IgG and IgA in three, and by a deficiency of either IgG or IgA in two. In five, an increase in IgM was the sole abnormality. Two children had deficiencies of IgG and IgA with normal serum levels of IgM. Ten of the 12 affected individuals had no IgD detectable by radial immunodiffusion and six had a low percentage of IgG-bearing B lymphocytes. A lack of correlation between the immunochemical abnormalities and either the presence or severity of clinical illness was observed. The presence of immunodeficiency in three generations and in both sexes of this family suggests an autosomal dominant mode of inheritance with variable penetrance of the defect.
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PMID:Familial variable immunodeficiency: autosomal dominant pattern of inheritance with variable expression of the defect(s). 108 May 16

The role of suppressor cells in the pathogenesis of immunodeficiency was analyzed using a technique that permits study of the differentiation of B lymphocytes into immunoglobulin-synthesizing plasma cells. Lymphocytes from normals synthesized 4,910 ng of IgM, 1,270 ng of IgA, and 1,625 ng of IgG per 2 X 10(6) cells when cultured for 7 days in the presence of pokeweed mitogen. In contrast the lymphocytes from patients with common variable hypogammaglobulinemia did not synthesize significant quantities of immunoglobulin. When lymphocytes from 9 of 13 patients with common variable hypogammaglobulinemia studied were cocultured with normal lymphocytes, the synthesis of immunoglobulin by the normal lymphocytes was depressed by 75-100%. A comparable suppression of immunoglobulin synthesis by normal lymphocytes was observed when they were cocultured with T cells from hypogammaglobulinemic patients. These studies suggest that in some patients the disease common variable hypogammaglobulinemia may not be due to an intrinsic defect of B cells alone but may be cuased or perpetuated by an abnormality of regulatory T cells that act to suppress B-cell maturation and antibody production. Peripheral blood lymphocytes from myeloma patients also had a drastically reduced capacity to produce polyclonal immunoglobulins. Three of 6 myeloma patients tested had circulating mononuclear cells that suppressed immunoglobulin production by cocultured normal lymphocytes. Purified T cells from myeloma patients did not mediate this suppressor effect. These observations suggest that one mechanism for the humoral immune deficiency observed in myeloma patients is a block of polyclonal B-cell maturation by suppressor cells.
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PMID:The role of suppressor cells in the pathogenesis of common variable hypogammaglobulinemia and the immunodeficiency associated with myeloma. 108 93

Surface markers typical of T and B lymphocytes were present on varying proportions of peripheral blood lymphocytes from three infants with severe combined immunodeficiency disease. Despite this, functions mediated by T and B cells were either absent or very minimal in all three, including cell-mediated responses in vivo; the in vitro proliferative response to mitogens, allogeneic cells, or antigens; effector cell function in lymphocyte-antibody lymphocytolytic interaction assays; and in vitro synthesis of IgG, IgA, and IgM. In contrast, mononuclear cells from one of the infants were tested and found capable of lysing both human and chicken antibody-coated erythrocyte targets normally. Co-cultivation experiments with unrelated normal control lymphocytes failed to demonstrate suppressor cell activity for immunoglobulin synthesis in these infants. Augmentations of immunoglobulin production from 310 to 560% over that expected on the basis of individual culture data were noted in co-cultures of one of the infants' cells with two different unrelated normal control cells. These findings suggest that that infant may have had a T helper cell defect or that his T cells were unable to produce soluble factors necessary for B cell differentiation. The finding of cells with differentiation markers characteristic of T and B lymphocytes in each of these patients, though in variable quantities, is further evidence for heterogeneity among patients with the clinical syndrome of severe combined immunodeficiency and argues against the concept that their immunodeficiency was due to a stem cell defect.
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PMID:Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect. 108 54

Among patients with recurrent, protracted or chronic infections of the respiratory tract involving the middle ear, 18 were found to have immunodeficiencies. In 10 of the patients, deficiency of immunoglobulins belonging to the IgG, IgA and IgM classes was found. Seven patients had an isolated IgA deficiency. One patient had a combined immunodeficiency with defects of the T-cell system and the B-cell system. One patient had an isolated T-cell deficiency.
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PMID:Immunodeficiency syndromes with otorhinolaryngological manifestations. 108 76

Parameters of humoral and cellular immunity have been measured in 91 asthmatic patients. Mean serum levels of IgG and IgE were raised. IgG levels were higher in those with a family history of asthma. IgE levels were higher in those with a past history of atopic eczema, but intrinsic and extrinsic asthma could not be differentiated on the basis of IgE levels. Thirteen of 74 patients failed to respond to tetanus immunization, while only 1 failed to respond to Salmonella typhi H antigen. Tetanus nonresponders had a raised mean serum IgA level, reduced spontaneous lymphocyte tritiated thymidine uptake, and reduced thymidine uptake in fetal calf serum. Eight of 87 patients failed to mount delayed hypersensitivity reactions to a battery of five intradermal antigens. The tritiated thymidine uptake of lymphocytes stimulated with phytohemagglutinin was normal in autologous serum, but reduced in fetal calf serum. The data support the hypothesis that asthma may be associated with immunodeficiency states.
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PMID:Humoral and cellular immunity in asthma. 108 97

Surface IgD on blood lymphocytes was studied in 10 normal adults and 24 patients with primary immunodeficiencies by direct immunofluorescence, together with surface immunoglobulins of the other classes and with spontaneous rosette formation with sheep erythrocytes. In the normal adults, 8% of the lymphocytes bore delta chains (the figures for mu chains being 11%) and, among the cells positive for mu and/or delta, 70% were mixed stained, 22% and 8% being single stained for mu and delta respectively. In 10 patients with sex-linked agammaglobulinemia or variable immuno-deficiency, practically no cells bearing surface immunoglobulins, including IgD, were detectable. A normal distribution of surface immunoglobulins, including the results of double labeling for mu and delta, was found in five other immunodeficiency patients in whom there was a block of the terminal differentiation of B lymphocytes into plasma cells. A new kind of block in the differentiation of the B cell line was observed in two patients affected with sex-linked severe combined immunodeficiency and variable immuno-deficiency respectively. They showed high figures for IgD-bearing lymphocytes, some of which carried simultaneously mu chains, contrasting with the absence of lymphocytes carrying IgM without IgD and of IgG- or IgA-bearing cells. The data obtained in several other patients with low figures for IgG- and IgA-bearing lymphocytes and a predominance of IgD-carrying cells with an excess of single producers for delta chains over single producers for mu chains suggest an analogous but incomplete maturation arrest.
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PMID:Immunoglobulin D-bearing lymphocytes in primary immunodeficiencies. 109 Jun 63

Ataxia-telangiectasia is characterized by endocrine, neurologic, hematologic, hepatic, cutaneous and immunologic abnormalities. The immunologic deficiencies vary considerably from patient to patient, and in each patient with respect to time. The most frequent deficiencies of humoral immunity are diminished or absent serum and salivary IgA, diminished or absent serum IgE and impaired antibody responses to a variety of bacterial and viral antigens. Deficiencies of cellular immunity are commonly found by both in vivo and in vitro analyses. Histologic confirmation of these immunodeficiencies is readily observed in the lymphoid tissue. The thymus, which may be the seat of the primary abnormality in the immunodeficiency syndrome, regularly shows morphologic characteristics of an embryonic thymus.
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PMID:immunodeficiency in ataxia-telangiectasia. 109 83


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