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)

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

A 19-year-old male with pernicious anemia and hypogammaglobulinemia (common variable immunodeficiency: CVID) is reported in comparison with classical pernicious anemia. This case was characterized by an earlier onset of anemia, the absence of autoantibodies to intrinsic factor or gastric parietal cells and involvement of the pyloric antrum as well as the gastric corpus. It is suggested that dysregulation of cellular immunity produces the autoimmune lesion in the gastric mucosa, including the pyloric antrum, in a patient with CVID, and that some of such cases develop pernicious anemia.
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PMID:Pernicious anemia in a patient with hypogammaglobulinemia. 223 5

Five cases (3 men, 2 women) of late-onset variable immunodeficiency syndrome (CVID), characterized by similar clinical and immunological findings as well as histological demonstration of chronic granulomatous infection, are reported. All patients had frequent attacks of respiratory infections with recurrent bronchitis and pneumonia. In addition to predominating basally localized streaky-nodular lung changes all patients had hepatosplenomegaly and granulomatous infections of other organs. Immunologically, marked hypogammaglobulinaemia of all Ig classes, lymphopenia, and absence of terminal B-cell maturation were predominant. In-vitro tests under pokeweed-mitogen failed to demonstrate terminal plasma-cell differentiation of B-lymphocytes and thus Ig synthesis. Without pokeweed-mitogen there were largely nonsecretory B-blasts with abnormal granulated cytoplasmic Ig formation. Skin testing with Multitest application revealed almost complete anergy, both in the Arthus (24 h) and the late reactions (48 and 72 h). Nonetheless, T-cell reaction in-vitro was much less affected than B-cell function. "Natural killing" and antibody-dependent cytotoxicity were normal or slightly increased.
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PMID:[Acquired immunodeficiency syndrome with chronic granulomatous inflammation. Clinically definable special form of the variable immunodeficiency syndrome]. 348 49

Nodular lymphoid hyperplasia ( NLH ) of the intestine is a lymphoid proliferation which occurs in patients with common variable immunodeficiency disorders ( CVID ). The nodules contain B cells but their pathogenesis is unknown. To determine whether the presence or absence of NLH might be associated with blood B cell abnormalities we studied CVID patients with and without NLH . CVID patients with NLH had a higher percentage of B cells in their blood than those without NLH . Blood lymphocytes from both groups of CVID patients proliferated less well in Cowan Staph. A stimulated cultures than control lymphocytes. Similar trends were observed in cultures stimulated with pokeweed mitogen and analyzed by karyotype. Our results suggest that blood B cells from patients with NLH are relatively unresponsive to B cell mitogens despite their near-normal numbers.
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PMID:B cell numbers and responses in patients with common variable immunodeficiency and nodular lymphoid hyperplasia of the bowel. 661 56

Cutaneous, noninfectious, granulomatous lesions have been reported occasionally in different types of immunodeficiencies, including common variable immunodeficiency (CVD). We present a child with CVID and cutaneous granulomas with a strikingly prominent caseating necrosis. We think that such granulomatous lesions constitute a distinctive manifestation of immunodeficiency, and may reflect a altered immune response. Corticosteroids have been of benefit to our patient, as well as in similar cases.
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PMID:Caseating cutaneous granulomas in a child with common variable immunodeficiency. 765 46

B and T cell phenotypes in peripheral blood from 71 CVID patients have been measured in a study using directly conjugated monoclonal antibodies and two colour flow cytometry. Data was compared between different patient groups (based on whether their B cells could secrete IgM or IgG in vitro) and normal donors. There was a clear correlation between abnormalities of both B and T cells and the different patient groups. There were reduced absolute numbers of circulating CD4+ T cells, particularly those of the CD4+.CD45RA+ subset, and of CD19+ B cells in those patients whose B cells failed to secrete IgM or IgG in vitro. This demonstrates an association between B cell lymphopenia, failure of B cell immunoglobulin production in vitro and T cell subset lymphopenia in CVID. It supports the view that this group of CVID patients has a disease involving T cell regulation of B cells of varying severity.
Immunodeficiency 1994
PMID:Study of B and T cell phenotypes in blood from patients with common variable immunodeficiency (CVID). 791 65

Defects in T cell function are known to be present in a subset of patients with CVID, but the true nature of these defects still has to be revealed. In prior studies we described that T cells from these patients show an impaired proliferative response following activation with recall antigens (E. coli, Tet. Tox., TBE and PPD). Gene expression of IL2 and IFN-gamma in patients' T cells following antigenic stimulation was significantly reduced compared to controls, while IL-2R transcripts were normal. To further characterize the defect we examined T cell responses to bacterial enterotoxins, collectively termed superantigens. Following stimulation with optimal (10 ng/ml p < 0.05) as well as suboptimal (1 ng/ml p < 0.0025) concentrations of staphylococcal enterotoxin A (SEA), proliferative response and cytokine release (IL-2 and IFNg) were significantly decreased in patients' T cells as compared to controls'. When patients' T cells were stimulated with staph. enterotox. C3 (SEC3) an even more pronounced difference between patients' and controls' T cells could be observed (10 ng/ml p < 0.002, 1 ng/ml p < 0.0005). Our data indicate that, in addition to the defect in antigen-induced T cell activation, T cells of CVID patients express a broader impairment in the interaction between the antigen presenting cell and the TCR.
Immunodeficiency 1993
PMID:Activation of CVID patients' T cells with conventional antigens and superantigens. 816 91

CVID is a primary immunodeficiency syndrome comprising a heterogeneous group of patients with hypogammaglobulinaemia and defective formation of specific antibodies. Previous studies demonstrated defective T cell responsiveness to antigen in a major subgroup of patients. In the present study we investigated the capacity of peripheral blood monocytes and Epstein-Barr virus (EBV)-transformed B cell lines from seven patients with CVID, including two patients expressing an extended MHC haplotype described to be associated with CVID, to present antigen (Tet. Tox.) to CD4+ antigen-specific T cell lines from healthy controls. The results presented show an unimpaired capacity of peripheral blood monocytes to present antigen in all patients studied. In addition, the present study demonstrates for the first time that CVID B cells function normally as antigen-presenting cells (APC). These findings indicate that expression of a certain MHC phenotype in CVID is not associated with a defect in the presentation of recall antigen by monocytes and B cells. Based on these studies, uptake, processing and re-expression of recall antigen in association with MHC class II molecules on the APC surface are functional and there is no indication for structural abnormalities of the MHC class II molecules expressed by the patients studied that could be essential for their function in antigen binding and presentation.
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PMID:Antigen presentation by common variable immunodeficiency (CVID) B cells and monocytes is unimpaired. 909 3

This report documents the occurrence of a peripheral T cell lymphoma arising in the bone marrow and liver of a patient with common variable immunodeficiency disease. The T cell origin of this lymphoma was demonstrated by immunohistochemical phenotyping and gene rearrangement studies and was not associated with EBV infection of the lymphoma cells. The frequency and characteristics of lymphomas complicating CVID are reviewed.
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PMID:Peripheral T cell lymphoma in a patient with common variable immunodeficiency disease: case report and literature review. 1004 33

Viruses and bacteria in bronchoalveolar lavage fluids, protected specimen brush samples, and bronchial biopsies from 14 patients with primary hypogammaglobulinemia (11 patients with common variable immunodeficiency [CVID] and three patients with X-linked agammaglobulinemia [XLA]) were analyzed. At the time of the study, the patients had no signs of acute respiratory infections, and no antibiotics were administered. In addition to routine bacterial and viral cultures, polymerase chain reaction tests were used for the detection of adenovirus, cytomegalovirus (CMV), herpes simplex virus 1, enterovirus, rhinovirus, Borrelia burgdorferi, Chlamydia pneumoniae, Legionella spp., Mycoplasma pneumoniae, Pneumocystis carinii, and Ureaplasma urealyticum. Viruses (four adenoviruses, one CMV, and one rhinovirus) were detected in four of the 11 (36%) CVID patients. No viruses were found in the three patients with XLA or in 13 control patients. Bacteria from the lower respiratory tract were detected in nine of the 14 (64%) patients with hypogammaglobulinemia and three of the 13 (23%) control patients. Haemophilus influenzae was the most prevalent bacterium (43%) in the hypogammaglobulinemia patients. The study shows that patients with CVID harbor viral and bacterial infections in the lower respiratory tract, which may predispose to the development of changes in the respiratory tract.
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PMID:Viruses and bacteria in bronchial samples from patients with primary hypogammaglobulinemia. 1019 66


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