PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Common Variable Immunodeficiency”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 307 records · Page 17Linked to original sources
PubMed2002

Giant cell myocarditis in a 12-year-old girl with common variable immunodeficiency.

Giant cell myocarditis (GCM) is a rare and often fatal disease that infrequently affects children. Common variable immunodeficiency (CVID) describes a heterogeneous group of disorders characterized by hypogammaglobulinemia and poor specific antibody responses. To our knowledge, CVID and GCM have not been reported together in 1 patient. We describe a 12-year-old girl with CVID who developed acute severe GCM that necessitated cardiac transplantation. Histopathological and immunohistochemical studies of the endomyocardial biopsy specimen and the explanted heart revealed numerous histiocytes, eosinophils, T cells, and multinucleated giant cells. Both CVID and GCM are thought to involve dysregulation of T-cell function and have been associated with a similar spectrum of autoimmune conditions. The coincidence of CVID and GCM in a single patient may reflect a pathophysiologic connection.

Child↗
PubMed2000

Study of the B cell memory compartment in common variable immunodeficiency.

We evaluated the B cell memory pool among blood B cells from 20 patients with common variable immunodeficiency (CVID). CD27+ B cell number was normal or increased in 6 patients (with 95% CD27+ B cells in 1 patient) and decreased in 14 patients. In 13 or 15 patients studied, the CD27 molecule was detectable on less than 50% IgG or IgA B cells, indicating a defect in the maturation of these memory cells. Within the group of patients with a low number of CD27+ B cells, no up-regulation of this molecule was observed after in vitro stimulation of purified B cells from 3 of 5 patients studied, suggesting an intrinsic B cell defect. In addition, ligation of the CD27 molecule was unable to trigger terminal differentiation of purified B cells in 1 of 2 cases with a large number of CD27+ B cells. Finally, the CD27 ligand was normally expressed on activated T cells in only 5 of 14 patients studied. These data confirm the heterogeneity of immunological defects in patients with CVID. Abnormal expression and/or function of the CD27-CD70 members of the TNF/TNF receptor family contribute to the immunological defect.

Antigens, CD↗
PubMed1996

Sarcoidosis and common variable immunodeficiency. Report of 8 cases and review of the literature.

The true incidence of sarcoidosis in common variable immunodeficiency (CVID) is unknown. We report here 8 cases of sarcoidosis among 80 patients with CVID followed in our clinics, along with 22 well-documented cases reported in the literature. Sarcoidosis, therefore, represents an important entity to consider among patients with CVID who exhibit clinical, radiographic, laboratory, and biopsy findings compatible with sarcoidosis. Conversely, the diagnosis of CVID should be considered in patients with sarcoidosis who do not exhibit the characteristic hypergammaglobulinemia and who have a history of recurrent infections. Although many features of sarcoidosis are similar in patients with CVID to those in patients with sarcoidosis alone, there are many important differences. Patients with CVID in whom sarcoidosis develops present with hypogammaglobulinemia rather than hypergammaglobulinemia and have a higher prevalence of recurrent infections, thrombocytopenia, and splenic involvement. Steroids, in most cases, appeared helpful in reducing adenopathy and splenomegaly, improving uveitis, lowering serum alkaline phosphatase, and reversing hematologic abnormalities. The underlying pathophysiology responsible for the association of these 2 disorders in the same patient remains obscure. However, as more patients are identified, it may be possible to gain a better understanding of the immunologic defect responsible for the dual presentation of these 2 relatively uncommon diseases.

Adult↗
PubMed2001

Impaired nutritional status in common variable immunodeficiency patients correlates with reduced levels of serum IgA and of circulating CD4+ T lymphocytes.

BACKGROUND: Common variable immunodeficiency (CVI) is a primary defect of the immune system. Infections, persistent diarrhoea and malabsorption may result in malnutrition, which may in turn contribute to increased morbidity. In this paper, the prevalence of malnutrition in CVI was evaluated. PATIENTS AND METHODS: Forty CVI patients (20 male, 20 female, aged 17-75 years) underwent anthropometric measurements from which body mass index, arm fat and muscle area were calculated. Body mass index values < 18.5 and arm fat and muscle area values < 10th percentile were considered indicative of malnutrition. Patients were divided into four groups according to circulating CD4+ T cells (lower or greater than 300 microL(-1)) and serum immunoglobulin A (IgA) levels (detectable and undetectable). RESULTS: Body mass index < 18.5, arm fat and muscle area < 10th percentile were observed in 23%, 58% and 44%, respectively, of patients. Lower values of body mass index, arm fat and muscle area were more frequent in patients with low CD4+ cells and undetectable IgA. Low arm fat values were more frequent in patients with diarrhoea (P = 0.03). Infectious episodes were more frequent in undetectable IgA than in detectable IgA patients (P = 0.04). CONCLUSIONS: Anthropometric measurements revealed an increased rate of malnutrition in CVI patients, particularly in those with low CD4+ and undetectable IgA, suggesting that selected CVI subjects could be considered for standard or specialized nutritional support.

Adolescent↗
PubMedDate not supplied

Effect of interferon-alpha therapy in a patient with common variable immunodeficiency and chronic Epstein-Barr virus infection.

We report an 18-year-old boy with common variable immunodeficiency who presented with splenomegaly as well as left axillary and lateral cervical lymphadenopathy. Main laboratory investigations showed severe thrombocytopenia. Epstein-Barr virus (EBV) DNA was detected in the patient's throat-washing specimens and lymph node biopsy. Lymphocytes from the lymph node biopsy were also positive for EBV nuclear antigen. Serology for EBV and cytomegalovirus was negative. A therapeutic attempt with acyclovir did not influence the course of infection. Six months' treatment with human lymphoblastoid interferon-alpha (IFN alfa) brought about the normalization of clinical and hematologic conditions. Detection on throat-washing specimens carried out 1 year after therapy was negative. Our preliminary experience suggests that human lymphoblastoid IFN-alpha is a valid alternative in therapy of immunodeficient EB virus-infected patients.

Adolescent↗
PubMed2005

Bone marrow clonogenic capability, cytokine production, and thymic output in patients with common variable immunodeficiency.

In patients with primary Ab deficiencies, hematological and immunological abnormalities are frequently observed. A regenerative failure of hemopoietic stem/progenitor cells has been hypothesized. We evaluated in the bone marrow (BM) of 11 patients with common variable immunodeficiency, the phenotype of BM progenitors and their in vitro growth by colony-forming cell (CFC) and long-term culture (LTC) assays. A significant decrease in erythroid and mixed CFC and, to a greater extent, in primitive LTC-CFC progenitors was observed in patients compared with healthy controls. The frequency of BM pre-B and pro-B cells correlated directly with the absolute number of CD19+ lymphocytes. BM cells cultured in vitro produced spontaneously lower amounts of IL-2 and elevated levels of TNF-alpha compared with controls, indicating a skewing toward a proapoptotic cytokine pattern. In addition, stromal cells generated after BM LTC secreted less IL-7 and displayed by immunohistochemistry an altered phenotype. These findings were associated with a significant decrease in naive Th cells coexpressing CD31 in the peripheral blood. These results indicate an impaired growth and differentiation capacity of progenitor cells in patients with common variable immunodeficiency.

Adult↗
PubMed2002

Hyperintense basal ganglia on T1-weighted magnetic resonance images in a patient with common variable immunodeficiency associated with elevated serum manganese.

The authors report on a 32-year-old man with common variable immunodeficiency and high signal intensity in basal ganglia on T1-weighted images. No signal alteration on T2-weighted and postcontrast images was observed. The patient had elevated levels of manganese in the serum. The authors conclude that the unusual hyperintensity in the basal ganglia area on T1-weighted images resulted from manganese deposition due to liver dysfunction.

Adult↗
PubMed2005

Deficiency of somatic hypermutation of immunoglobulin G transcripts is a better predictor of severe respiratory tract infections than lack of memory B cells in common variable immunodeficiency.

Defects of memory B cells and of somatic hypermutation (SHM) are involved in the pathogenesis of common variable immunodeficiency (CVID). Here we report for the first time a systematic study of the relationship between memory B cell deficiency and SHM abnormalities in CVID, and relate these variables to prediagnostic infections. Isotype switched Vh3-23 transcripts were undetectable or low in 30% (IgG) and 63% (IgA) of the patients, but never in controls (P < 0.001). When measurable, the SHM fraction of transcripts was significantly lower in patients (IgM: median 32% vs. 56% (P = 0.0002); IgG: 72% vs. 87% (P = 0.0002); IgA: 81% vs. 88% (P = 0.04)). The concentration of switched (CD19+/CD27+/IgG+) and unswitched (CD19+/CD27+/IgM+/IgD+) memory cells was reduced in 75% and 58% of the patients, respectively. Patients with reduced concentrations of switched memory B cells had normal or low SHM, and only the IgG SHM fraction correlated with prediagnostic incidence of severe respiratory tract infections (P = 0.004).

Adult↗
PubMed2000

Common variable immunodeficiency (CVID) and inclusion body myositis (IBM).

A case of a 38-year old man with a common variable immunodeficiency syndrome (CVID) is demonstrated who suffered at the same time from a histologically proven inclusion body myositis (IBM). The myositis did not resolve after institution of regular intravenous IgG infusions. This case demonstrates a very long lasting benign course of IBM. The occurrence with CVID may be a clinical hint for a viral pathogenesis of IBM. So far only two similar cases are reported in the literature.

Adult↗
PubMed2001

Common variable immunodeficiency with unusual vegetative lesions of the tongue and labial mucosa: a case report.

A case of common variable immunodeficiency with unusual vegetative lesions of the tongue and lower lip in a 28-year-old man is presented. The vegetative lesions developed over the preceding 10 months and clinically were suggestive of malignancy. The biopsy specimens showed no malignancy, and a bacterial culture of the tongue detected abundant Staphylococcus aureus. Combined treatment with a corticosteroid antibiotic ointment and povidone iodine rinse produced remarkable resolution of the lesions. Laboratory examination showed markedly decreased levels of serum immunoglobulins. Intravenous gamma globulin replacement therapy resulted in good control of infection and disappearance of the lesions.

Adult↗
PubMed1998

Common variable immunodeficiency leading to spinal subacute combined degeneration monitored by MRI.

A patient is reported on with a common variable immunodeficiency syndrome (CVID), in whom chronic gastritis with antibodies against parietal cells and a cytomegalovirus associated enteritis led to vitamin B12 deficiency with consecutive subacute combined degeneration of the spinal cord. The resulting medullary changes, most probably representing demyelination, were visualised with MRI. The effects of treatment were also monitored over three years by MRI and clinical examination. The resolution of the MRI changes correlated with clinical improvement of the patient's signs. In the medical literature only five cases of vitamin B12 related spinal cord changes have been identified by MRI; none was caused by a CVID syndrome.

Autoimmune Diseases↗
PubMed2004

Polyglandular autoimmune syndrome type III accompanied by common variable immunodeficiency.

We identified polyglandular autoimmune (PGA) syndrome type III in a 24-year-old nurse with common variable immunodeficiency (CVID). An immune-mediated disorder, membranoproliferative glomerulonephritis, was diagnosed when she was 15 years old. Clinical examination and laboratory findings revealed a PGA syndrome due to the presence of hypergonadotropic hypogonadism, insufficient growth hormone response and thyroid autoimmunity. The patient had neither adrenal disease nor hypoparathyroidism. Therefore we concluded that this patient has PGA syndrome type III. This is an interesting case, because we could not find any previous report of such coexistence between PGA type III and CVID in a Medline search. Coexistence of these two entities may be a result of autoimmunity and the association of both conditions with human leukocyte antigen.

Adult↗
PubMed1992

Various responses of lymphocytes to Epstein-Barr virus in patients with common variable immunodeficiency.

The responses of lymphocytes to Epstein-Barr virus (EBV) were investigated in five patients with common variable immunodeficiency (CVID). In three patients with CVID in whom the percentages of CD20+ cells and CD21/EBV receptor+ cells were markedly reduced, PBMCs and/or B cells did not respond (or scarcely) to EBV. This may be due to reduction of B cell numbers or reduction of EBV receptor bearing cells. In one patient with CVID in whom the percentages of CD20+ cells and CD21/EBV receptor+ cells were mildly reduced, PBMCs and/or B cells responded well to EBV and secreted immunoglobulin (Ig). This result shows that the patient's B cells with EBV receptors are sufficient to transduct EBV-signals into the nucleus and to respond to EBV. In another patient in whom the percentages of CD20+ cells and CD21/EBV receptor+ cells were not reduced, PBMCs mildly responded to EBV and scarcely secreted Ig. This result shows that the patient's B cells with EBV receptors may not be sufficient to transduct EBV-signals into the nucleus and to respond to EBV.

Antibody-Producing Cells↗
PubMed2004

Monocyte derived dendritic cell responses in common variable immunodeficiency.

The phenotype and function of monocyte derived dendritic cells (MdDC) were investigated in 25 patients with common variable immunodeficiency (CVID) to test for abnormalities that might help explain the failure of antibody production. Using MHC class II DR and CD86 as markers of maturation, DCs from the majority of CVID patients were normal. However 5 patients, the majority of whom had affected family members who had previously been shown to have a susceptibility genetic locus in the MHC region, expressed abnormally low levels of DR on repeated testing, in some cases associated with a reduced capacity to support antigen stimulated T cell proliferation; nevertheless costimulatory molecules for production of IL-13, IL-10 and IFN-gamma from T cells were intact. In contrast to DCs from healthy donors, DCs from many CVID patients had high spontaneous production of IL-8 and lipopolysaccharide stimulation often caused a reduction in DR expression. Expression of other cytokines (IL-1a, IL-6 and IL-12), either before or after LPS stimulation, was normal. The data suggests there is a fundamental defect in the maturation of MdDCs in a subset of CVID patients that may compromise antigen presentation and subsequent antibody production.

Adult↗
PubMed1992

Serum IgG subclass concentrations before and after administration of intravenous immunoglobulin in common variable immunodeficiency.

IgG subclass levels were measured before and after administration of intravenous immunoglobulins (IVIGs) in patients with common variable immunodeficiency (CVI). Six patients were treated with IVIG at the dose of 100-150mg/kg to maintain a trough level of 200mg/dl every 4 or 5 weeks, except for patient 5 who was given IVIG only 3 or 4 times per year. Three kinds of IVIGs, polyethylene-glycol (PEG)-treated IVIG, alkylated IVIG and sulfonated IVIG were used for replacement therapy. Although serum IgGl levels were low before administration of IVIGs, they increased to the normal levels after each administration of IVIGs in four patients. IgG2 preserved normal levels before and after administration of IVIGs in all patients. IgG3 was present at low normal concentration in patient 1, low concentration in patients 2, 3 and 6, and undetectable in patients 4 and 5 before infusion. Although increases in IgG3 levels were shown after infusion of PEG-treated IVIG, there were no increases after infusion of sulfonated or alkylated IVIG. However, there have been several reports that IgG3 is detected in sulfonated or alkylated IVIG preparations by another method. IgG4 levels were somewhat low before administration, but four patients achieved normal serum levels with treatment. In light of the above results of replacement therapy with IVIGs, we should consider the IgG subclass levels for patients such as CVI or selective IgG subclass deficiency.

Adolescent↗
PubMed1992

Lymphoproliferative lesions in patients with common variable immunodeficiency syndrome.

We reviewed our experience with 30 nodal and extranodal lymphoid lesions from 17 patients with common variable immunodeficiency (CVID). Immunohistochemical studies were performed on biopsies from 15 patients, in situ hybridization for Epstein-Barr virus in nine cases, and gene rearrangement analysis on seven lesions. The biopsies were classified into four groups: malignant lymphoma (two cases); atypical lymphoid hyperplasia (eight cases); reactive lymphoid hyperplasia (14 cases); and chronic granulomatous inflammation (six cases). The two malignant lymphomas were diagnosed using histologic criteria; tissue was not available for the assessment of clonality. In one neoplasm, Epstein-Barr virus was identified in the tumor cells by in situ hybridization. The cases of reactive lymphoid hyperplasia and chronic granulomatous inflammation had no atypical architectural, cytologic, or immunohistochemical features. The cases of atypical lymphoid hyperplasia were of particular interest, as these patients had either widespread involvement or massive disease. The diagnosis of lymphoma was considered likely by the clinicians and, in three cases, the histologic slides were originally interpreted as malignant lymphoma by the referring pathologists. Although the architecture of these lesions appeared to be effaced on hematoxylin and eosin-stained sections, immunohistochemical analysis demonstrated preserved architecture with florid expansion of B-cell and T-cell compartments. In addition, clinical follow-up of these patients was benign, and gene rearrangement analysis in three lesions revealed no evidence of clonality. We conclude that the majority of lymphoid lesions in patients with CVID are benign. Immunohistochemical and gene rearrangement studies are particularly helpful in the assessment of cases of atypical lymphoid hyperplasia.

Adolescent↗
PubMed2000

Antioxidative capacity in patients with common variable immunodeficiency.

Highly reactive oxygen species (ROS) are involved in T-cell activation and in the defense against environmental pathogens. An imbalance of ROS generation, detoxifying scavenger enzymes, and molecules with antioxidant capacity could contribute to the increased susceptibility to cancer and infections in severe humoral immunodeficiency. We studied antioxidant status, i.e., plasma antioxidant capacity (TEAC), retinol, alpha-to-copherol, ubiquinol, and the number of activated T cells in 16 patients with common variable immunodeficiency (CVID) compared to age-matched healthy controls. As expected, patients showed significantly increased levels of activated HLA-DR and CD45RO-expressing T cells. Plasma levels of the endogenous ROS scavenger ubiquinol (Q 10) were significantly lower in patients as compared to controls. However, patients showed only slightly reduced levels of TEAC as well as the exogenous antioxidants retinol and alpha-tocopherol. Although no correlation of the number of activated T cells and antioxidant capacity could be demonstrated, an increase in ROS and a diminished reactive oxygen scavenger capacity may be involved in the disease process in patients with common variable immunodeficiency.

Adolescent↗