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)

Agammaglobulinemia was diagnosed in a 1-year-old Thoroughbred horse on the basis of the following observations: (1) absence of serum immunoglobulins M, A, and G(T); (2) small amounts of serum immunoglobulin G (16 mg/100 ml); (3) absence of specific antibody in the serum of the horse following immunization and challenge exposure to 2 antigens; (4) absence of plasma cells, primary follicles, and germinal centers in a lymph node removed after antigenic stimulation; (5) absence of "natural" serum antibodies to rabbit-erythrocytes which were easily detectable in age-matched control horse serums; and (6) increased susceptibility to infections. There was evidence of functional cell-mediated immunity which included a skin response to injected phytolectins, skin response to antigen challenge following sensitization, and in vitro proliferative response of lymph node cells to phytohemagglutinin. An intact cell-mediated immune response was also supported by the observation that the horse lived to 17 months of age without antibody production, whereas horses with an absence of both antibody production and cell-mediated immunity (combined immunodeficiency) die by 4 months of age without immunologic intervention. The known features of agammaglobulinemia in this horse are similar to those in sex-linked agammaglobulinemia in persons and are unique among the immunodeficiences described in other animals.
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PMID:Agammaglobulinemia in a horse with evidence of functional T lymphocytes. 108 80

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

The morphology of lymphatic tissues in 43 autopsy cases of children with inherited immunodeficiency states were analysed. Among the more common diseases, such as Di-George-syndrome, CID-patients, congenital agammaglobulinemia Bruton, CVID, selective IG-A deficiency, Wiskott-Aldrich-syndrome, tissue sections of very rare conditions associated with immunodeficiency, e.g. fetopathia diabetica and leprechaunismus, were investigated by routine and immunohistochemical stainings. Clinical history and laboratory data, augmented by the characteristic pathomorphology of lymphatic tissue sections, will establish or at least suggest a definite diagnosis. Since true thymic dysplasia is very rare (or even non-existent) in the human, this term should be abandoned. Severe thymic tissue alterations in SCID-patients, occur secondary to enzyme defects in lymphatic cells. If patients are successfully treated by bone marrow transplantation, the thymus will subsequently develop into a functionally normal organ.
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PMID:[Morphological changes in the lymphatic system of children with hereditary immunologic deficiency syndromes]. 128 43

Current techniques allow the manufacture of intravenous immunoglobulin that fully retain their antibody content and function. Immunoglobulins have been show to be effective therapy for immune thrombocytopenia, neonatal allo(iso)immune thrombocytopenia, agammaglobulinemia, acquired immunodeficiency., premature neonates, burn patients, prophylaxis and treatment of infection in high risk and other conditions.
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PMID:[The indications for intravenous immunoglobulins in pediatric practice]. 132 24

Seven forms of X-linked (XL) immunodeficiency have been described (XL agammaglobulinemia, XL severe combined immunodeficiency [SCID], Wiskott-Aldrich syndrome, XL chronic granulomatous disease, XL hyper-IgM syndrome with low IgG and IgA, and XL lymphoproliferative syndrome), and properdine deficiency. Although there are (some) phenotypic variants, diagnosis is relatively simple on the basis of clinical, immunological, and genetic characteristics. We studied a family in which several males were affected by severe infections and whose pedigree suggested recessive XL inheritance of an immunodeficiency. Immunologic and genetic studies (X inactivation patterns in females and restriction fragment length polymorphism [RFLP] segregation) were performed in order to characterize the immunodeficiency. The propositus, a 5-yr-old boy, was found to have a severe and progressive T- and B-cell functional immunodeficiency characterized by defective antigen-specific responses. No lymphocyte subsets or membrane anomalies were detected and the immunodeficiency did not correspond to usual XL forms. Studies of DNA from two of the informative females, the mother and one sister revealed nonrandom X chromosome inactivation of T cells and, partially, B cells but not PMN, a pattern similar to that observed in XL SCID carriers. RFLP studies identified a haplotype segregating with the abnormal locus that may be localized in the proximal part of the long arm of the X chromosome. We thus report the characterization of a new XL immunodeficiency that may correspond either to another XL locus or to an attenuated phenotype of XL SCID.
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PMID:Genetic study of a new X-linked recessive immunodeficiency syndrome. 134 96

Although X-linked lymphoproliferative disease (XLP) is rare (1-2 males per 1 x 10(6)), it serves as a model for discerning diverse diseases caused by Epstein-Barr virus (EBV) ranging from agammaglobulinemia to fatal infectious mononucleosis following infection with the virus. The study of patients with XLP has also paved the way to understanding how EBV induce diseases in children with primary immunodeficiency diseases, organ transplant recipients, and those with acquired immunodeficiency syndrome. This review is dedicated to the memory of Gordon Vawter, M.D., who generously provided insights into the causes of pathogenesis of immune deficiency and lymphoproliferative disorders.
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PMID:The X-linked lymphoproliferative disease: from autopsy toward cloning the gene 1975-1990. 166 Jun 1

Primary immunodeficiency syndromes may be seen as "experiments of nature", giving insights into the organization and function of the human immune system. The principal categories of primary immunodeficiency syndromes: severe combined immunodeficiency, agammaglobulinemia and isolated T-cell defects (e.g. Di George Syndrome) are still used in view of their leading clinical presentations. However, detailed analysis of individual cases and families now shows a plethora of different diseases in each category. In this review the relationship of primary immunodeficiency diseases of the B-cell system and autoimmune phenomena are discussed. The pathology of thymus in severe combined immunodeficiency is shown: central maturation defects of the T-cell system are not due to "dysplasia" of the thymus but rather to enzyme defects of the lymphatic cells. Severe alterations of the thymus may also be caused by graft versus host disease. The clarification of genetic defects of lymphoid differentiation and maturation today may lead to improved early and prenatal diagnosis as well as specific gene therapy. The success of bone marrow transplantation in many cases of primary immunodeficiency disease syndromes may be considered as a consequence of successful gene therapy.
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PMID:[Inborn immunodeficiencies]. 172 40

We have treated 23 children aged 6 to 15 years affected with agammaglobulinemia or severe hypogammaglobulinemia with IgG serum levels less than 100 mg/dL with IV gammaglobulin (Sandoglobulin), 150 to 300 mg/kg/3 wk for more than 3 years. The children suffered from severe and recurrent bacterial infections, mainly of the respiratory tract. They had been treated previously with IM gammaglobulin (0.8 ml/kg/3 wk), but their serum IgG values were never higher than 100 mg/dL. We compared the data of the follow-up after 3 years of treatment with IV gammaglobulin and the follow-up after 2 years course of IM gammaglobulin. Minor adverse reactions (chills, fever, abdominal pain) were observed only in some children during the first months of therapy. These data demonstrate that the number of infections or days with fever, in bed, or in hospital dramatically decreased during IV Ig therapy, while IgG serum levels increased to approximately normal values. IV Ig is a safe and effective treatment for patients with humoral immunodeficiency.
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PMID:Treatment with gammaglobulin preparation for intravenous use in children with humoral immunodeficiency: clinical and immunologic follow-up. 210 78

The study of differentiation antigens of circulating mononuclear cells in 70 patients with primary immunodeficiency (PID) using monoclonal antibodies allowed us to define phenotypic profiles that are characteristic of the different described syndromes. In common variable immunodeficiency we found percentages of lymphocytes within normal ranges, and an altered CD4/CD8 ratio. In sex-linked agammaglobulinemia, absence of B lymphocytes with normal distribution of regulatory populations (CD4/CD8) were found. These results allow us to distinguish two clinically and infectologically similar conditions. In selective IgA deficiency, distribution of lymphocytic populations was normal. In immunodeficiency with hyper IgM, considered up to date as an abnormal maturation of B lymphocytes, we observed a deficiency in cellular immune response, and a phenotypic profile characterized by: decreased number of CD3 cells, inverted CD4/CD8 ratio, and increased CD38 population; this profile being similar to the one that we found in predominantly cellular immunodeficiency. In predominantly cell-mediated immunodeficiency and in those immunodeficiencies associated to other defects (such as: hyper IgE syndrome, Di George syndrome), the most important finding was a significative increase in CD38 population. Although it's not possible to consider on this basis that there is a defect at the thymic level of T-cells maturation, the high levels of circulating CD38 cells were a clear indication of altered cellular immune response in our series of patients. Patients with predominantly cell-mediated immunodeficiency showed the lowest levels of CD4 cells and the corresponding inversion of CD4/CD8 ratio. In Di George syndrome we found a markedly diminished CD8 population that differentiates this entity from the rest of the studied syndromes. In chronic mucocutaneous candidosis distribution of lymphocytic populations was normal, but a significative increase in the percentages of CD11b+ cells was observed. In patients with antibodies deficiency that received substitutive treatment with gammaglobulin we found no variations in lymphocytic populations distribution. In the group of patients with altered cellular immunity treated with thymic hormones, observed phenotypic changes (increase in T-cells population, trend to normalization in CD4/CD8 ratio, and decrease in CD38 population) were transient, and lasted only during the treatment period. We considered that describing these phenotypic profiles is a useful diagnosis tool when evaluating patients with PID, since these profiles are characteristic and very stable.
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PMID:[Phenotypic changes in the mononuclear cells of patients with primary immunodeficiencies]. 228 62

Subpopulational composition of peripheral blood and bone marrow lymphocytes was studied in 17 children with different forms of immunodeficiency, combined with hematological shifts (agammaglobulinemia--6, mucocutaneous candidiasis--2, selective IgG-deficiency--2, hyper-IgM syndrome--3, cephalo-oculocutaneous telangiectasia (COCT)--2, general, variable immunodeficiency--2 patients; neutropenia was observed in all the patients, lymphopenia--in 13, anemia-in 6 patients. Surface markers were assayed by flow cytofluorometry with monoclonal antibodies OKT3, OKT4, OKT8, OKB7, produced by "Ortho diagnostics". Changes characteristic of certain forms of primary immunodeficiency have been revealed in the subpopulational composition of peripheral blood and bone marrow lymphocytes: decreased helper potential in patients with general variable immunodeficiency, T-lymphocyte deficiency in patients with COCT increased number of phenotype T3 cells and decreased amount of B-cell in agammaglobulinemia patients. Significant heterogeneity has been noted in the parameters of hemogram, myelogram and in the subpopulational composition of peripheral blood and bone marrow lymphocytes in each nosologic form, the group of patients with hyper-IgM syndrome has proved to be most heterogeneic. It has been suggested that the changes in the subpopulational composition of bone marrow lymphocytes may be responsible for primary immunodeficiency and disorders in hemopoiesis.
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PMID:[Phenotyping of blood and bone marrow lymphocytes in children with primary immunologic deficiency]. 237 47


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