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Results for “Common Variable Immunodeficiency”

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At least 235 records · Page 13Linked to original sources
PubMed2006

Defective maturation of dendritic cells in common variable immunodeficiency.

Monocyte-derived dendritic cells (MdDCs) from many patients with common variable immunodeficiency (CVID) have been shown recently to have reduced expression of surface molecules associated with maturity. Using flow cytometry and confocal microscopy, we now show that this is due to a partial failure to fix Class II DR molecules on the surface during procedures that induce full maturation in vitro in cells from normal subjects. Major histocompatibility complex (MHC) class I, CD86 and CD83 expression were expressed normally, but CD40 was reduced. These abnormalities are unlikely to be due to prior in vivo exposure of monocytes to lipopolysaccharide (LPS), as addition of LPS to monocytes from normal subjects in vitro caused a different pattern of changes. CVID MdDCs retained Class II DR in the cytoplasm during maturation, showed increased internalization of cross-linked Class II DR surface molecules and were unable to polarize DR within a lipid raft at contact sites with autologous lymphocytes. These cells retained some features of monocytes, such as the ability to phagocytose large numbers of fixed yeast and fluorescent carboxylated microspheres and expression of surface CD14. These abnormalities, if reflected in vivo, could compromise antigen presentation and may be a fundamental defect in the mechanism of the antibody deficiency in a substantial subset of CVID patients.

Adult↗
PubMed1994

Impaired TCR signal transduction, but normal antigen presentation, in a patient with common variable immunodeficiency.

We describe a 27-year-old white man with common variable immunodeficiency (CVID) who has two healthy histoidentical brothers and one IgA-deficient sister who shares one HLA haplotype with the patient. T cells from the patient with CVID showed an impaired response to recall antigens (tetanus toxoid, E. coli), whereas his IgA-deficient sister and his two healthy histoidentical brothers responded normally. Cross-mixing experiments using isolated monocytes and T cells from the CVID patient and one histoidentical brother revealed that the patient's monocytes were fully functional in processing and presenting antigen to resting T cells of his brother, and provided normal accessory cell function for superantigen-induced activation of his brother's resting T cells. In contrast, the patient's T cells were unable to respond to antigen presented by the brother's monocytes and failed to respond with an increase in intracellular free Ca++ to stimulation with superantigen, which is known to bind to the TCR V beta-chain outside the antigen-binding groove. However, stimulation with a combination of PMA and IM, directly activating protein kinase C and increasing intracellular free Ca++ by bypassing membrane receptors, induced normal Ca++ flux. These data indicate that the patient with CVID has a defect in TCR-mediated signalling at the level of the T cells which is not present in his histoidentical healthy brothers or in his haploidentical IgA-deficient sister.

Adolescent↗
PubMed1992

An unusual T-cell surface phenotype in vivo correlates with the failure to proliferate and produce IL-2 in vitro in a patient with common variable immunodeficiency.

Stimulation of T-lymphocytes derived from some patients with common variable immunodeficiency (CVID) syndrome results in defective proliferation. The underlying mechanism is related to the inability of stimulated cells to secrete IL-2 while the expression of IL-2 receptor (IL-2R) is normal. We have identified a patient whose peripheral T-cells failed to proliferate and secrete IL-2 upon stimulation. The addition of recombinant IL-2 restored proliferation. The defect did not seem to be caused by accessory cell failure since the patient's adherent cells produced IL-1 and IL-6, and addition of allogeneic irradiated cells did not induce proliferation. Stimulation of CVID T-cells with phorbol esters and Ca2+ ionophore induced both IL-2 secretion and proliferation, indicating the absence of a defect in the transcription and/or translation of the IL-2 gene. The patient's T-cells expressed high levels of CD3. The majority of T-cells expressed the CD38 molecule which is normally found on thymocytes or activated T-cells but not peripheral blood T-cells and HLA-DR, another activation marker. However, CD25 (the IL-2R) and CD1, a marker of more immature thymocytes, were not expressed. Finally, the patient's cells were sensitive to an in vitro corticosteroid treatment. The possibilities that this patient's T-cells represent anergic T-cells or not fully matured thymocytes are discussed.

ADP-ribosyl Cyclase↗
PubMed1996

Common variable immunodeficiency presenting in a girl as lung infiltrates and mediastinal adenopathies leading to severe "superior vena caval" syndrome.

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.

Anti-Inflammatory Agents↗
PubMed2005

Common variable immunodeficiency mimicking rheumatoid arthritis with Sjögren's syndrome.

Several autoimmune diseases have been reported to be associated with common variable immunodeficiency disease (CVID), including rheumatoid arthritis and Sjögren's syndrome. On the other hand, approximately 20-30% of patients with rheumatoid arthritis develop secondary Sjögren's syndrome. A 26-year-old woman had a 6-year history of chronic symmetric polyarthritis and 3-year history of sicca syndrome prior to admission for pneumonia. Rheumatoid arthritis with secondary Sjögren's syndrome had been diagnosed 1 year before. The patient had experienced 3 episodes of pneumonia during the previous 3 years. Markedly depressed serum immunoglobulin levels prompted a suspicion of common variable immunodeficiency, and the impression was confirmed after a series of examinations. Monthly administration of intravenous immunoglobulin (IVIG) alleviated the polyarthritis and improved the sicca syndrome. IVIG replacement therapy was ultimately successful in curing recurrent bacterial infections, chronic polyarthritis, and improving the severity of sicca syndrome.

Adult↗
PubMed1995

Immunodeficiency syndromes. X-linked agammaglobulinemia, common variable immunodeficiency, Chédiak-Higashi syndrome, Wiskott-Aldrich syndrome, and X-linked lymphoproliferative disorder.

The incidence and mortality of neoplasia in patients with primary immunodeficiencies exceed the anticipated rates in the normal population by approximately 100 to 300 times. Lymphoreticular malignancies account for the majority of tumors, although solid tumors, especially gastric carcinoma, occur with increased frequency as well. More than half of these neoplasms are diagnosed by ten years of age, except in patients with a later age of onset of immunodeficiency. Five primary immunodeficiency disorders with an increased risk of neoplasia are reviewed.

Agammaglobulinemia↗
PubMed2003

Human herpes virus-8-negative primary effusion lymphoma in a patient with common variable immunodeficiency.

Primary effusion lymphoma (PEL) is a newly described high-grade B cell lymphoma developing in association with human herpes virus type 8 (HHV-8) in human immunodeficiency virus (HIV)-infecting individuals. Common variable immunodeficiency (CVID) is a primary immunodeficiency disease characterized by reduced serum immunoglobulin and heterogeneous clinical features. The risk of cancer in CVID patients is increased. Here, we describe a PEL that developed in the pleural and pericardial cavities of an HIV-negative and HHV-8-negative patient with CVID.

Common Variable Immunodeficiency↗
PubMed2006

Non-sarcoidal, non-tuberculoid granuloma in common variable immunodeficiency.

Sarcoidal (non-caseating) or tuberculoid granulomas are cutaneous manifestations of common variable immunodeficiency (CVID). In this case report, we describe a patient with CVID but with non-sarcoidal, non-tuberculoid granuloma. The 29-year-old Egyptian male patient presented with a vitiliginous patch on the chin of 1 year duration and multiple recurrent warts on the hands and feet of 8 years duration. He is a known case of CVID with chronic diarrhea, recurrent otitis media, pneumonia, purulent conjunctivitis, septic arthritis, hepato-splenomegaly, and generalized lymphadenopathy. In addition, he had evidence of multiple non-tender subcutaneous nodules predominantly juxta-articular and recurrent rheumatoid-like arthritis. The skin overlying the nodules was either normal or slightly erythematous. Laboratory findings revealed markedly reduced serum immunoglobulins (IgG 3.4, n = 7.2-16.9 g/l; IgA 0.1, n = 0.69-3.82 g/l and IgM 0.1, n = 0.63-2.77 g/l) and deficient T cell function. Histopathologic examination of a skin nodule showed well demarcated areas of fibrinoid degeneration of collagen that stain homogeneously and are surrounded by histiocytes in a palisading arrangement, suggestive of granuloma annulare. No microorganisms could be detected. Serology for rheumatoid factor and HIV infection has been persistently negative. Although most infections, including common warts responded well to intravenous immunoglobulin replacement therapy (12 g/i.v., every 2 weeks) and oral broad spectrum antibiotic therapy, the subcutaneous nodules persisted. The vitiliginous patch responded favorably and disappeared within 24 local PUVA sessions. Since skin nodules are asymptomatic, no further treatment was given.

Adult↗
PubMed1977

Reversible dysfunction of T-lymphocytes in common variable immunodeficiency.

A 30-year-old man with recurrent sinopulmonary infections, eventually fatal, was found to have common variable immunodeficiency. In addition to low serum immunoglobulin concentrations he also had lymphopenia and cell-mediated immunodeficiency as shown by cutaneous anergy and a poor lymphocyte response to phytohemagglutinin (PHA) in vitro. However, intradermal injection of PHA produced a vigorous cutaneous response, showing that some cell-mediated responsiveness remained. The responsiveness of his lymphocytes to PHA was restored towards normal (confirmed by chromosome studies) by the addition of a small number of normal leukocytes to cultures; thus a reversible functional defect in his T-lymphocytes was revealed. Experiments indicated that the defect was cellular and not due to serum factors and it was concluded that normal leukocytes restored a missing factor to the patient's T-lymphocytes. Although counts of macrophage precursor cells in the bloodstream were low, thus contributing to the immunodeficiency, this could not have caused the reduced PHA response. Several relatives of this patient had lymphoma; two cousins had common variable immunodeficiency.

Adult↗
PubMed2000

Histoplasmosis capsulatum as a cause of lower gastrointestinal bleeding in common variable immunodeficiency.

Infection with Histoplasma capsulatum is the most common systemic fungal infection in the United States, but symptomatic gastrointestinal disease is rare. Gastrointestinal involvement is seen in patients with an established immunosuppressed state that predates any infection. We report a patient presenting with gastrointestinal bleeding ultimately diagnosed with disseminated histoplasmosis. Work-up led to the diagnosis of common variable immunodeficiency, a diagnosis not previously described as associated with gastrointestinal histoplasmosis. Resolution of the colonic ulcer was documented after appropriate antifungal therapy, underscoring the importance of including this infectious process in the differential of a patient without other risk factors for colonic ulceration.

Common Variable Immunodeficiency↗
PubMed2005

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.

Common variable immunodeficiency (CVID) is an antibody deficiency syndrome that often co-occurs in families with selective IgA deficiency (IgAD). Vorechovský et al. (Am J Hum Genet 64:1096-1109, 1999; J Immunol 164:4408-4416, 2000) ascertained and genotyped 101 multiplex IgAD families and used them to identify and fine map the IGAD1 locus on chromosome 6p. We analyzed the original genotype data in a subset of families with at least one case of CVID and present evidence of a CVID locus on chromosome 16q with autosomal dominant inheritance. The peak (model-based) LOD score for the best marker D16S518 is 2.83 at theta=0.07, and a 4-marker LOD score under heterogeneity peaks at 3.00 with alpha=0.68. The (model-free) NPL score using the same markers peaks at the same location with a value of 3.38 (P=0.0001).

Chromosome Mapping↗
PubMed2001

Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance.

BACKGROUND: Common variable immunodeficiency (CVID) is characterised by a late onset deficiency of immunoglobulins resulting in recurrent infectious and non-infectious ailments. Most cases are sporadic but occasional familial clustering has been described. We present an extensively affected family with CVID in three consecutive generations. METHODS: We conducted a study in this family to establish clinical phenotype, to clarify the mode of inheritance and to attempt to characterise the immune disturbance by determining immunoglobulin concentrations and B- and T-cell analysis. RESULTS: We describe six patients with CVID in three consecutive generations. In addition, we encountered 10 family members with dysimmunoglobulinemia. B-cell counts were normal, but T-cell analysis showed slightly abnormal results. CONCLUSIONS: The six cases of overt late onset hypogammaglobulinemia are compatible with an autosomal dominant mode of inheritance. The family members with dysimmunoglobulinemia may be at risk to develop overt CVID in the future, in view of the gradual course of progression of the disease in the clinically affected family members. B- and T-cell analysis are inconclusive though may support a possible defect in T-cell function to be involved. To further study this remarkable family and attempt to clarify pathogenesis, we are planning DNA linkage analysis in the near future.

Adult↗
PubMed1996

Activation via the antigen receptor is impaired in T cells, but not in B cells from patients with common variable immunodeficiency.

The patients included in this study belong to a subset of common variable immunodeficiency (CVID) patients whose peripheral blood T cells have a T cell receptor (TCR)-mediated activation defect leading to impaired expression of the interleukin (IL)-2 gene upon stimulation with recall antigens (tetanus toxoid, Escherichia coli) or superantigens (staphylococcal enterotoxins). In the present report we demonstrate that the patients' peripheral blood T cells failed to generate the second messenger inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) following stimulation with superantigen or mAb specific for the monomorphic region of the TCR beta-chain. Patients' T cell lines were also impaired in generating Ins(1,4,5)P3 when stimulated with tetanus toxoid-pulsed autologous monocytes. Addition of a second or third co-stimulatory signal provided by recombinant IL-2, CD28 or both had no effect on the Ins(1,4,5)P3 formation of the patients' antigen-driven T cell lines. The T cell activation defect, however, was not absolute, as Ins(1,4,5)P3 formation in the patients' T cells after phytohemagglutinin or aluminium fluoride stimulation was normal. The impairment in signal transduction via the T cell antigen receptor was limited to the patients' T cells, as no activation defect after ligation of surface immunoglobulin, the antigen receptor on B cells, could be detected.

Antibodies, Monoclonal↗