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

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

Common variable immunodeficiency and ataxia-telangiectasia with immunodeficiency are both well recognized syndromes which occur in children. The aetiological factors responsible for both these conditions have yet to be defined clearly. The clinical and laboratory features in two siblings, one with common variable immunodeficiency and the other with ataxia-telangiectasia, are presented. This is the first report of these two entities occurring in siblings.
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PMID:The occurrence of ataxia-telangiectasia and common variable immunodeficiency in siblings: case report. 751 39

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

Inclusion body myositis developed in two men, 36 and 48 years old with long-standing common variable immunodeficiency. Immunophenotypic analysis of the endomysial cells showed an increased number of natural killer (NK) cells (defined as CD57+, CD56+, CD3-, CD8-, CD68-) accounting for 8.5 to 9.5% of the total cells, compared with a mean of 1% in sporadic inclusion body myositis. The remaining cells were CD8+, macrophages, and CD4+ T cells. NK cells were positive for intercellular cell adhesion molecule-1 and invaded muscle fibers negative for major histocompatibility complex (MHC) class I. In contrast to ubiquitous endomysial expression of MHC class I antigen in sporadic inclusion body myositis, the MHC class I in common variable immunodeficiency and inclusion body myositis was absent or weakly expressed in only some of the muscle fibers surrounded by CD8+ cells. Enteroviral or retroviral RNA sequences were not amplified. Treatment with intravenous immunoglobulin improved strength in 1 patient whose repeated muscle biopsy specimen showed normal NK cells. We conclude that inclusion body myositis can develop in patients with common variable immunodeficiency. Common variable immunodeficiency with inclusion body myositis is an immune myopathy mediated by NK cells in a non-MHC class I-restricted cytotoxicity, and by CD8+ cells in an MHC class I-restricted process. This is the first description of an inflammatory myopathy in which NK cells participate in the myocytotoxic process.
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PMID:Common variable immunodeficiency and inclusion body myositis: a distinct myopathy mediated by natural killer cells. 777 55

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

Lymphoproliferative disorders and selected carcinomas which occur as complications of primary or secondary immunodeficiencies are frequently fatal. The incidence rates of these cancers vary from 1% to as high as 25% among specific groups of persons with primary (genetically-determined) immunodeficiencies as well as acquired immunodeficiencies, including immunosuppressed organ transplant recipients and individuals infected with HIV. Lymphoproliferative disorders including Epstein Barr virus (EBV) associated B cell lymphoproliferative disease (BLPD) and Hodgkin's disease represent the predominant category of tumors in both primary and acquired immunodeficiencies. EBV is an important cofactor common to many, but not all, B cell "lymphomas." Immunodeficient individuals who are at risk for developing EBV BLPD may demonstrate both inadequate immune responses to the virus as well as generalized immunoregulatory dysfunction reflected as imbalances in cytokine production favoring the proliferation of transformed B lymphocytes. Historically, the success of treatment of lymphoproliferative disorders in immunodeficiencies with conventional multi agent chemotherapies and/or radiation has been limited by unfavorable tumor response rates and high morbidity and mortality related to intercurrent opportunistic infections. With improvements in supportive care and the use of recombinant biologic response modifiers such as alpha interferon and/or other immunotherapies to treat EBV BLPD, survival of immunodeficient hosts following tumor diagnosis may improve. In addition to lymphoproliferative disorders, patients with congenital immunodeficiencies associated with IgA deficiency (including ataxia telangiectasia and Common Variable Immunodeficiency) are at increased risk for gastrointestinal carcinomas. Early detection and surgical excision of such tumors can result in prolonged survival in such patients.
Immunodeficiency 1994
PMID:Lymphoproliferative disorders and other tumors complicating immunodeficiencies. 803 67

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

Common variable immunodeficiency (CVI) is a heterogenous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, and various immunologic abnormalities. In addition to recurrent infections, patients with this syndrome also have an increased incidence of autoimmune disease and malignancy. Because the spectrum of associated diseases is broad, patients with CVI are seen by various medical specialists. This review discusses the pathogenesis, clinical manifestations, diagnosis, and treatment of CVI.
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PMID:NIH conference. New insights into common variable immunodeficiency. 837 15

Common variable immunodeficiency (CV1) is defined by low serum IgG and IgA levels, and it is the second most frequent primary immunodeficiency. The indication for treatment with human gammaglobulin in patients with this syndrome has been well established. Here we report a case history of a patient diagnosed of common variable immunodeficiency, and she had treatment with i.v. commercial gammaglobulin. In the course of the disease, she developed symptoms that make us think about the possibility of hepatitis virus infection. HBV-associated antigens and antibodies, and HCV-Ab were all negative. So, amplification of HCV-RNA by polymerase chain reaction (PCR) was performed, and it became positive in two different determinations. Liver failure got worse quickly and the patient died. About the course of the HCV infection, only 30% of patients with acute hepatitis get biochemical resolution, and 50-70% become carriers and have persistent chronic hepatitis or active chronic hepatitis. In this case, HCV infection showed an unusual acute and fatal course, it is possible that the impaired immune status of the patient could play a role in the acute course of the disease. Therefore, every patient who have intravenous immunoglobulin replacement must be monitored regularly for liver function tests, and by PCR for HCV infection.
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PMID:Unusual course of the hepatitis C virus infection in one patient diagnosed of common variable immunodeficiency. 857 3

Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by decreased levels of circulating immunoglobulins (Ig) and increased susceptibility to infections. We describe the case of a girl, progressively developing CVID, whose first clinical manifestations were noninfectious diffuse pulmonary infiltrates and rapidly developing hilar and mediastinal lymphadenopathies causing a severe "superior vena caval syndrome". Histological evaluation of surgical samples showed follicular and paracortical hyperplasia of the lymph nodes and poorly organized, non-necrotizing, noninfectious, "reactive" granulomata in lymph nodes and pulmonary tissue. Daily treatment with azathioprine and prednisone induced resolution of the intrathoracic abnormalities but was associated with a progressive decrease of circulating IgG and IgA levels and natural killer (NK) lymphocytes that was not related to treatment. This case demonstrates that granulomatous inflammatory changes may be the first manifestations of common variable immunodeficiency, and that this disorder must be included in the differential diagnosis of lymphoid interstitial pneumonitis and of bilateral mediastinal lymph node enlargement leading to superior vena caval syndrome.
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PMID:Common variable immunodeficiency presenting in a girl as lung infiltrates and mediastinal adenopathies leading to severe "superior vena caval" syndrome. 888 Jan 19


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