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Results for “Common Variable Immunodeficiency”

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PubMed1993

Kinetics of hypogammaglobulinemia in patients with common variable immunodeficiency.

We investigated the production of immunoglobulin (Ig) in six patients with common variable immunodeficiency and analyzed the courses of their levels of serum Ig for a period of 8-13 years. In all patients, levels of serum IgM, IgG and IgA were markedly low at the first examination, except for the IgM level in one patient. Improvement of serum Ig levels was observed in the patients in whom Ig production of non-T cells at the first examination and C mu gene expression had been detected to a slight degree, but serum Ig levels remained low in the patients in whom Ig production of non-T cells and C mu gene expression had not been detected. Our results suggest that some hypogammaglobulinemia in common variable immunodeficiency develops or improves with age.

Agammaglobulinemia↗
PubMedDate not supplied

Primary leiomyosarcoma of brain in an adolescent with common variable immunodeficiency syndrome.

A 14-year-old girl with common variable immunodeficiency syndrome was found to have a low-grade malignant neoplasm arising in the left temporal lobe of the brain. Ultrastructural and immunohistochemical studies established a diagnosis of leiomyosarcoma, despite the rarity of this tumor in children. In situ hybridization with the EBER probe revealed essentially all of the neoplastic cells to be infected with Epstein-Barr virus (EBV). Children with the acquired immunodeficiency syndrome (AIDS) are known to exhibit an increased incidence of smooth muscle tumors associated with EBV. Similar tumors have been reported in EBV-infected patients undergoing therapeutic immunosuppression. This appears to be the first reported case of childhood leiomyosarcoma where the cause of the underlying immunodeficiency was a genetic rather than acquired disorder. The authors conclude that electron microscopy, immunohistochemistry, and other ancillary techniques are essential in the evaluation of unusual tumors in immunocompromised children, whether the cause is hereditary or acquired.

Adolescent↗
PubMed2003

Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.

Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report the results of a genome-wide scan in three multiplex families with CVID, IgAD, and dysgammaglobulinemia, where affection is inherited in an autosomal dominant pattern. Two of the families are consistent with linkage to the telomeric region of chromosome 5p, whereas the third is consistent with linkage to the HLA region. Using a locus heterogeneity model and a conservative penetrance model, we obtained a LOD score of 3.35 for the 5p region. We sequenced the exons of one promising candidate gene within this region (PDCD6, also known as ALG-2) but found no causative mutation.

Adolescent↗
PubMed1996

Rapidly progressive hepatitis C in a patient with common variable immunodeficiency.

UNLABELLED: A 15-year-old girl with common variable immunodeficiency contracted hepatitis C, which progressed to liver cirrhosis and finally to hepatic failure 5 years later. Since she was agammaglobulinaemic, hepatitis C virus (HCV) infection was diagnosed on the basis of HCV-RNA detection. Quantification of her sera showed high levels of HCV-RNA (more than 10(7) copies of RNA/mL), which implied active viral replication. There were no other hepatotoxic factors except HCV infection. The initial liver biopsy at 16 years of age and the autopsy confirmed a rapid progression in liver histopathological change over 4 years. CONCLUSION: Contrary to the widely held view of a benign short-term prognosis in paediatric hepatitis C, progressive fatal liver disease can develop in some patients with HCV infection. Such a rapid progression of liver injury provides the rationale for antiviral therapy in at least certain high risk groups of these children. Hepatitis C may progress rapidly in an immune deficiency condition.

Adolescent↗
PubMed2004

Common variable immunodeficiency is associated with defective functions of dendritic cells.

Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and defects in T-cell functions that could be primary or secondary. We addressed whether CVID is associated with impairment in the dendritic cell (DC) compartment, as DCs play a central role in the development of adaptive immunity. We demonstrate that DCs from CVID patients display severely perturbed differentiation, maturation, and function, and express markedly reduced levels of the costimulatory molecules that are critical for T-cell stimulation. Patients' DCs induced weak proliferation of allogeneic T cells and produced significantly low amounts of interleukin-12 (IL-12) upon CD40 signaling. Multiple defects in the immune system, including malfunctioning of DCs, appear to be prominent features of CVID patients. Impairment in both the innate and adaptive compartments of the immune system may thus cumulatively account for the inability of CVID patients to eradicate pathogens through conventional immune pathways, thus resulting in an increased risk for recurrent bacterial infections.

Cell Differentiation↗
PubMed1996

Persistent activation of the tumor necrosis factor system in a subgroup of patients with common variable immunodeficiency--possible immunologic and clinical consequences.

In patients with common variable immunodeficiency (CVI), we have previously defined a subgroup of patients (CVIHyper) characterized by decreased numbers of CD4+ lymphocytes in peripheral blood, splenomegaly, and persistent immune activation in vivo, particularly of monocytes/macrophages. To further characterize this hyperactivity, parameters of activation of the tumor necrosis factor (TNF) system (TNF alpha and soluble TNF receptors [sTNFRs]) were measured in 24 patients with CVI and 20 healthy controls. Patients with CVI had significantly higher serum levels of TNF alpha and both types of sTNFRs, with the highest levels in the CVIHyper subgroup. In vitro, peripheral blood mononuclear cells (PBMC) and purified monocytes from CVIHyper patients spontaneously released significantly higher levels, and, after lipopolysaccharide (LPS) stimulation, significantly lower levels of TNF alpha and soluble p75-TNFR than cells from both other CVI patients and healthy controls. CVIHyper patients also had significantly higher TNF alpha:sTNFRs ratios in both serum and in unstimulated PMBC supernatants. The present study demonstrates persistent in vivo activation of the TNF system in CVI, particularly in the CVIHyper subgroup. This activation may contribute to the pathogenesis of both clinical and immunologic manifestations in CVI.

Adult↗
PubMed1983

Autologous mixed lymphocyte reaction in man. IV. Decreased autologous mixed lymphocyte culture response in patients with common variable immunodeficiency.

The autologous mixed lymphocyte reaction (AMLR) was studied in 18 patients with common variable immunodeficiency. The AMLR was decreased in 10 of 18 (55%) patients with common variable immunodeficiency compared to healthy controls. In allogeneic MLR, T cells from patients were found to be poor responders, and non-T cells poor stimulators, compared to allogeneic MLR between healthy normal controls. In allogeneic MLR, B cells (B cells + null cells) from patients were poor stimulators, whereas macrophages stimulated normally compared to controls. The deficient AMLR could be one of the mechanisms responsible for the increased risk of autoimmune phenomena in a subset of patients with primary immunodeficiency.

Adolescent↗
PubMed1991

Granulomatous enteropathy in common variable immunodeficiency: a cause of chronic diarrhoea.

Gastrointestinal disease is a well recognized feature in patients with common variable immunodeficiency, and is often due to infection with a variety of organisms. Symptoms usually improve with appropriate antibiotic therapy and replacement gammaglobulin. We describe three middle-aged female patients with common variable immunodeficiency who had protracted diarrhoea and weight loss. Despite extensive investigation no infectious cause was found. All patients had granulomas distributed throughout the gastrointestinal tract, but no features of inflammatory bowel disease. There was a poor response to gammaglobulin replacement therapy, antibiotics or symptomatic treatment. We suggest that granulomatous enteropathy is another gastrointestinal manifestation of common variable immunodeficiency.

Adult↗
PubMedDate not supplied

Intravenous gamma globulin administration to common variable immunodeficient women during pregnancy: case report and review of the literature.

Women with common variable immunodeficiency have decreased serum concentrations of all immunoglobulin isotypes. Their offspring are at a high risk for the development of neonatal infection caused by the minimal quantity of maternal immunoglobulin G (IgG) transplacentally transported during pregnancy. These patients are usually given frequent doses of exogenous IgG during the third trimester to increase the amount of IgG transported to the fetus. In this article, we describe the results of initiating a therapeutic regimen of high doses (400 mg/kg) of intravenous gamma globulin every 3 weeks starting in the first trimester of pregnancy for a woman with common variable immunodeficiency. In contrast to most reports, this regimen enables the patient to attain high serum IgG levels early in pregnancy, thereby decreasing the possibility of perinatal sepsis. In addition, the need for frequent administration of intravenous gamma globulin during the third trimester is bypassed with the attainment of protective IgG concentrations in the newborn infant.

Adult↗
PubMedDate not supplied

The nasal mucosa in immunodeficiency. Surface morphology, mucociliary function and bacteriological findings in adult patients with common variable immunodeficiency or selective IgA deficiency.

Twenty-two adult patients suffering from common variable immunodeficiency (CVID) and sixteen patients with selective IgA deficiency were examined with regard to the mucocilliary function of the nose. The surface structures of the nasal mucosa, e.g. cell distribution and degree of destruction and metaplasia, were judged from scanning electron microscopy of nasal biopsies. Bacteria were isolated from nasopharyngeal swabs. The results of the clinical and morphological investigations were analysed with regard to the duration of the disease and possible benefit of adequate prophylaxis with immunoglobulin. It was found that patients with CVID had a slower mucociliary transport rate and more extensive mucosal damages than patients with selective IgA deficiency. Most likely these alterations were due to repeated infections as patients who had had few infections or adequate immunoglobulin prophylaxis (CVID patients) had better mucociliary function and showed less extensive mucosal changes. Potentially pathogenic bacteria in the nasopharynx were found in equal numbers in both patient groups.

Adolescent↗
PubMed1988

Intestinal nodular lymphoid hyperplasia in patients with common variable immunodeficiency: local accumulation of B and CD8(+) lymphocytes.

Common variable immunodeficiency (CVI) with hypogammaglobulinemia is often complicated by nodular lymphoid hyperplasia of the intestine. In this study the lymphoid constituents of intestinal nodular hyperplasia of five CVI patients were characterized with monoclonal antibodies. Few CD4(+) but abundant CD8(+) T lymphocytes were found around the follicles. The follicles were populated mainly by B cells expressing surface IgM. A few cells in the lamina propria expressed Leu7. No intracytoplasmic immunoglobulin-containing plasma cells were seen. Peyer's patches in gut biopsies from controls were also composed of follicles with B lymphocytes. A ring of T lymphocytes surrounded the follicles. CD4(+) helper cells largely outnumbered CD8(+) cells in this ring. Moreover, plasma cells were present in the lamina propria and the mixed cell zone covering the follicles. In peripheral blood of the patients, B cells were present in normal proportions but they could not be induced to produce IgG in vitro by T cell-dependent (pokeweed mitogen) or T cell-independent (Staphylococcus aureus Cowan I) mitogens. In two of the patients, IgM production could be induced in vitro. Peripheral blood T cells were predominantly CD8(+) in three of the five patients, and in these same patients an increase in suppressor-cell activity of peripheral blood T cells on immunoglobulin production was observed. The data demonstrate a block in B-cell differentiation in the gut and in peripheral blood. Whether the local increase in CD8(+) cells in the nodular lymphoid hyperplasia is a primary event or is secondary to chronic immune stimulation and whether it contributes to local inhibition of B-cell differentiation remain to be investigated.

Adult↗
PubMed2002

Assessment of thymic output in common variable immunodeficiency patients by evaluation of T cell receptor excision circles.

Common variable immunodeficiency (CVID) is a heterogeneous syndrome characterized by repeated infections and hypogammaglobulinaemia. Additionally, T-cell abnormalities including lymphopenia, decreased proliferation to mitogens and antigens, and the reduced production and expression of cytokines, have also been observed. In this study we have investigated the expression of naive, memory and activation markers in T-cell subpopulations in 17 CVID patients in comparison to age-matched normal controls. The numbers of CD4+ T cells, including CD45RA+CD62L+ and, to a lesser extent, CD45RA-CD62L+/RA+CD62L- were significantly reduced in patients, whereas CD8+ T cells were within normal range. In contrast, HLA-DR+ cells were increased both in CD4+ and CD8+ T cells. To assess the thymic output, we analysed the presence of T-cell receptor excision circles (TRECs) in CD4+ and CD8+ T cells by quantitative PCR. TRECs were decreased significantly in patients and the rate of TREC loss was higher with increasing age. TRECs correlated with naive CD4+ T cells, whereas there was an inverse relationship between TRECs and CD8+HLA-DR+ and CD8+CD45RA-CD62L+/RA+CD62L- T cells. Our results suggest the presence of a defect in the naive T cell compartment with origin at the thymic level in CVID, and indicate that TREC may be a useful marker to monitor thymic function in this primary immunodeficiency.

Adult↗
PubMed2006

Herpes simplex virus type 1 colitis in a patient with common variable immunodeficiency syndrome.

We report on a case of herpes simplex virus (HSV) type 1 colitis in a 69-year-old patient with common variable immunodeficiency syndrome. A treatment with polyvalent immunoglobulins was discontinued in April 2001. In March 2004 she developed chronic diarrhoea related to rectosigmoidal and caecal ulcerations. In November 2004, HSV was recovered in tissue culture from colonic biopsies. Valaciclovir was then started, leading the patient to clinical remission at day 4, and continued for a 6-week course (without any secondary antiviral prophylaxis). Colonic biopsies were negative for HSV by tissue culture and PCR within 3 weeks of antiviral treatment. Intravenous polyvalent immunoglobulin infusions were readministered within the third week of antiviral treatment. She has declared no clinical event since this period. Three months after the antiviral treatment was achieved, a rectosigmoidoscopy showed an ad-integrum macroscopic and histological mucosal healing whereas PCR was negative for HSV in the colonic tissue. As a large proportion of patients with common variable immunodeficiency syndrome present not only as a humoral immunodeficiency but also as a defect in the cellular immunity compartment (with T-cell deficits), HSV, as well as cytomegalovirus, should be investigated in patients with common variable immunodeficiency syndrome presenting colitis.

Aged↗
PubMed1996

Relationship of the dose of intravenous gammaglobulin to the prevention of infections in adults with common variable immunodeficiency.

The objective was to assess clinical efficacy of 3 dosages of intravenous gammaglobulins to prevent infectious episodes in adult common variable immunodeficiency. We designed a randomized, double blind, dose-assessing study. The setting was at University Hospital, Out-patient Clinic. Our patients were twenty-one adult patients with common variable immunodeficiency. The measurements were comparative study of the number and severity of infections using 3 various dosages of intravenous gammaglobulins, each given monthly for M least 6 months. Results indicated four hundred and eighty-four infectious episodes occurred while giving 305 infusions of IVIG 200 mg/kg; 205 infectious episodes while giving 170 infusions of 400 mg/kg and 436 infectious episodes while giving 247 infusions of 600 mg/kg. The morbidity scores (infection/infusion) were 1.59, 1.21 and 1.77 respectively (p - N/S). There was no significant difference in the severity of infections on the above 3 dosages, and no difference in the duration of infection-free intervals. The conclusions resulted in no significant differences in morbidity in adult patients with common variable immunodeficiency treated in cross-over pattern with IVIG 200 mg/kg, 400 mg/kg and 600 mg/kg. Thus, high dosages of IVIG are not conferring better protection against infections in such patients.

Adult↗
PubMed2004

Assessing thymopoiesis in patients with common variable immunodeficiency as measured by T-cell receptor excision circles.

BACKGROUND: Common variable immunodeficiency (CVID) is one of the most common primary immune deficiencies. The immunologic hallmark of CVID is failure of B-cell differentiation and impaired secretion of immunoglobulins. However, there is mounting evidence of accompanying T-cell dysregulation, which could be due to abnormal thymic function because the thymus plays a crucial role in T-cell development. Recently, it was shown that the human thymus remains functional well into adulthood. Current data show that the level of T-cell receptor excision circles (TRECs) correlates well with active thymopoiesis. OBJECTIVE: To determine whether thymic dysfunction contributes to the pathogenesis of CVID. METHODS: We evaluated 15 patients, aged 19 to 65 years, previously diagnosed as having CVID. Genomic DNA was isolated from peripheral blood mononuclear cells of each patient. Thymic output was evaluated by measuring coding joint TRECs in the total T-cell population using real-time polymerase chain reaction. RESULTS: Results were compared with known age-matched reference values. The median TREC level in patients with CVID (82,034 copies/microg of DNA) was significantly higher than that in the healthy cohort (43,000 copies/microg of DNA) (P < .001). In examining the relationship between TREC levels and age, we noted that TREC levels significantly declined faster with age in patients with CVID vs the healthy cohort. CONCLUSIONS: In these patients, thymic dysregulation may be a factor in CVID, with an accelerated rate of TREC loss with age compared with healthy adults.

Adult↗
PubMed2005

TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency.

PURPOSE OF REVIEW: The complex system of the tumour necrosis factor ligands BAFF and APRIL and their three receptors BCMA, TACI and BAFF receptor and its role in B-cell development and function is the objective of extensive research. Whereas the importance of BAFF/BAFF receptor interactions for B-cell survival could be clearly demonstrated, TACI is believed to counteract BAFF activity as a negative regulator in the murine model. The primarily immunodeficient phenotype of human TACI deficiency, however, claims a distinct function of this receptor in human peripheral B-cell development, class switch recombination and terminal differentiation. RECENT FINDINGS: Common variable immunodeficiency comprises a heterogeneous group of antibody deficiency syndromes characterized by impaired terminal B-cell differentiation. By means of molecular genetics common variable immunodeficiency is still ill-defined, but the description of the deficiency of the inducible costimulator in a small subgroup of common variable immunodeficiency patients set the starting point for the molecular dissection of this disease entity. The recent discovery of genetic defects in the tumour necrosis factor receptor superfamily members TACI and BAFF receptor in patients with common variable immunodeficiency denotes further advances in this field. SUMMARY: In this review we will discuss recent progress made in the understanding of the BAFF/APRIL-TACI/BCMA/BAFF receptor system in relation to the recent discovery that mutations in human TACI cause a primary humoral immunodeficiency. This suggests a refined role for TACI in human B-cell biology.

Animals↗