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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three siblings presented in early childhood with central-nervous-system (CNS) dysfunction, candida dermatitis, keratoconjunctivitis, and alopecia. Two were studied immunologically and had absent delayed-hypersensitivity skin-test responses and absent in-vitro lymphocyte responses to candida antigen. One of them had selective IgA deficiency and no antibody response to pneumococcal polysaccharide immunisation, and the other had a subnormal percentage of T lymphocytes in peripheral blood. The first two siblings died with progressive CNS deterioration and overwhelming infection. The third child, who presented with a periorificial candida dermatitis, alopecia, keratoconjunctivitis, and intermittent ataxia at eighteen months of age, had intermittent lactic acidosis and raised excretion of beta-hydroxyproprionate, methylcitrate, beta-methylcrotonylglycine, and beta-hydroxyisovalerate in urine. After four days of oral biotin, 10 mg/per day, the metabolites in her urine were significantly reduced, suggesting a biotin-responsive multiple carboxylase deficiency. These findings, taken with previous reports of immune defects in patients with disorders of branched-chain aminoacid catabolism, suggest a new biochemical basis for primary immunodeficiency disease.
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PMID:Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. 8 54

Up to 12% of epileptic patients have subnormal IgA serum concentrations. Previous observations suggest that IgA deficiency is correlated with hydantoin treatment and also with the type of seizure. In a followup study it is shown that IgA deficiency in epileptics is a rather constant feature of a given patient. The most pronounced changes in IgA levels were seen in patients in whom the hydantoin medication also changed. However, low IgA levels have also been reported in untreated epileptics. A new classification for the immunodeficiency state in epileptics is introduced.
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PMID:Immunodeficiency in epilepsy: a new view. 9 Jan 39

The immunoglobulin constituents of hypertrophied lymphoid nodules in the intestinal tracts of six patients with the variable immunodeficiency syndrome and one patient with selective IgA deficiency were evaluated by the peroxidase-labeled antibody technique. The nodules were found to contain a dense population of IgM-bearing lymphocytes and much intercellular IgM. Evidence that the cells were engaged in IgM synthesis was the presence of the immunoglobulin in the perinuclear spaces and endoplasmic reticulum. Most of the IgM lymphocytes also had surface membrane IgM, and both kappa and lambda light chains were found in lymphocytes of individual nodules. Only a few cells containing IgD, IgG, or J chain, and none containing IgA, were found. We conclude that the intestinal lymphoid nodules associated with hypogammaglobulinemic states are populated principally by IgM B-lymphocytes of polyclonal origin.
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PMID:Immunocytochemical characterization of the lymphocytes in nodular lymphoid hyperplasia of the bowel. 10 8

Clinical and laboratory data continue to support the concept of a genetically determined breakdown of immunological tolerance in myasthenia gravis with immunological damage to the motor end plates. The demonstration of impaired function of thymus-derived lymphocytes and of IgA deficiency correlate well with the clinical data in which there is an increase incidence of autoimmune diseases associated with anergy. Whilst the exact pathogenesis of myasthenia gravis is unknown, the available data support the concept of an immune deficiency disorder.
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PMID:Studies on the nature of autoimmunity in myasthenia gravis. Evidence for an immunodeficiency type. 13 59

The following case illustrates an unusual response by the dental pulp to caries in an immunodeficient patient. The patient, a 14-year-old boy, suffered from thymic dysplasia and IgA deficiency. Deep dentinal caries produced relatively little destruction of the pulp and only a mild inflammatory response, in spite of the presence of a large number of bacteria in the pulp chamber. The patient's immunologic disorder was diagnosed as hereditary combined immunodeficiency of unknown type. However, it may have been a variant of Nezelof's syndrome.
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PMID:Abnormal immune response to infection of the dental pulp. Report of a case. 26 83

T lymphocytes with receptors for IgM(Tmu) and IgG(Tgamma) were examined in thirty patients with primary immunodeficiency and autoimmune disorders. Six out of twenty-seven patients with primary immunodeficiency had a low proportion of Tmu cells when compared with normal controls. Eight out of twenty-seven patients with primary immunodeficiency had an increased proportion of Tgamma cells. Two out of twenty-seven patients had both a low proportion of Tmu cells and a high proportion of Tgamma cells. The patient studied with severe combined immunodeficiency had a low proportion of both Tmu and Tgamma cells. Patients with Bruton-type agammaglobulinaemia, common variable immunodeficiency, thymoma and immunodeficiency syndrome and selective IgA deficiency demonstrated heterogeneity with regard to alterations in T-cell subpopulations.
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PMID:Subpopulations of human T lymphocytes. I. Studies in immunodeficient patients. 30 82

A series of suppressor cell systems regulate virtually all immunologic processes. Disorders of these systems have been identified in association with a number of diseases. An abnormal number of activated suppressor T-cells have been seen in some patients with common variable hypogammaglobulinemia and in some with selective IgA deficiency. Suppressor T-cells that inhibit immunoglobulin synthesis also develop in an animal model of immunodeficiency, the agammaglobulinemia of the bursectomized bird. Non-T-cell suppressor cells are a pathogenic factor in the humoral immunodeficiency associated with multiple myeloma. At the other end of the spectrum of immunologic response, a reduction in functional activity of suppressor T-cells has been implicated in the pathogenesis of autoimmune diseases. The disorders of suppressor cells that have been shown in immunodeficiency and autoimmunity are important when developing rational strategies for prevention and therapy of these immunologic disorders.
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PMID:Disorders of suppressor immunoregulatory cells in the pathogenesis of immunodeficiency and autoimmunity. 30 22

Allergy often begins with a subtle and/or transient T cell defect. This defect is first responsible for an IgA deficiency. The normal function of IgA is immune exclusion. In its absence, allergens can pass through the mucosa and stimulate the immunocompetent cells. The T cell defect may also be implied by the synthesis of IgE directed against the allergens which passed through. Clinical, biological and immunological findings (T cell defect in allergic disease, low range of IgA in the early life of atopics) are in agreement. The genetic factor for pollinosis and house dust allergy are segregated. In ragweed allergy there is an Ir gene coding for antigen-specific Ig of different classes and a group of non-linked major histocompatibility complex alleles coding for non antigen-specific IgE. There are some links with HLA. In house dust allergy the Ir gene is very common and almost everyone can produce an allergy under some conditions (T cell defect). Whatever the immunologic and genetic factors are, they need allergens and environmental factors to induce allergy. Allergy is a complex state in which several mechanisms, often associated and sometimes unclear, are involved. Some of them may be an abnormality of the autonomic nervous system, and/or an increase in the mucous membrane permeability, and/or a subtle immunodeficiency. All these mechanisms are regulated by genetic factors and modulated by environmental ones.
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PMID:Immunologic and genetic factors predisposing to allergy. 37 74

Lymphocytes from patients with primary immunodeficiency were tested histochemically for ecto 5'-nucleotidase (5'N) and alpha-naphthyl (non-specific) esterase. More than half the patients with 'common variable' hypogammaglobulinaemia, all those with X-linked hypogammaglobulinaemia and some of those with selective IgA deficiency had a very low percentage of lymphocytes staining for 5'N as compared to controls. A lack of B cells probably explains the finding in X-linked hypogammaglobulinaemia, but does not fully explain the results in the other groups. Most patients with 'common variable' hypogammaglobulinaemia had a very low percentage of lymphocytes with granular staining for alpha-naphthyl (non-specific) esterase in contrast to normal numbers in those with X-linked hypogammaglobulinaemia and most of those with selective IgA deficiency. Granules containing non-specific esterase are characteristically found in 'mature' T lymphocytes. The enzyme abnormalities in the T and B cells of 'common variable' hypogammaglobulinaemic patients could be explained by 'immature' cell types.
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PMID:Histochemical studies for 5'-nucleotidase and alpha-naphthyl (non-specific) esterase in lymphocytes from patients with primary immunoglobulin deficiencies. 46 56

A spontaneously occurring antibasement membrane antibody has been further characterised according to antigenic specificity, immunoglobulin class, and tissue localisation using immunofluorescent and immunoelectron microscopic techniques. The autoantibody reacted with the basement membrane of kidney tubules, Bowman's capsule, and the epithelial portion of ileum but not with the basement membrane of skin, cornea, glomerulus, or oesophagus. It also reacted with bile canaliculi, sarcolemmal sheath, and salivary duct. On electron microscopy the antibody was distributed along the basement membrane of Bowman's capsule and renal tubules. Some reactivity against collagen was observed. Antibody activity was found in both IgG and IgM fractions. In immunodeficiency disorders, the autoantibody was found only in patients with selective IgA deficiency.
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PMID:Further characterisation of a spontaneously occurring antibasement membrane antibody. 67 Apr 18


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