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 37 records · Page 2Linked to original sources

PubMed2004

Abnormal interleukin-7 function in common variable immunodeficiency.

Common variable immunodeficiency (CVID) is characterized by low levels of circulating immunoglobulins, leading to frequent infections, particularly of the respiratory tract. Frequently, T-cell abnormalities are observed. Interleukin-7 (IL-7) is involved in the homeostasis of lymphocytes, and may be elevated in lymphopenia. Mutations of genes related to IL-7 may lead to severe immunodeficiency disorders. We report elevated plasma levels of circulating IL-7 in a subgroup of CVID. These patients have increased numbers of circulating CD8+ T cells with decreased apoptosis and a predominance of CC chemokine receptor 7- (CCR7-) effector-memory T cells. Moreover, in some of these patients there is impaired response to IL-7 as assessed by in vitro proliferation and secretion of interferon gamma and transforming growth factor beta. These findings suggest novel pathogenic mechanisms and specific targets for further research in CVID.

Adult↗

PubMed2006

Mortality and morbidity in common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by hypogammaglobulinemia, defective specific-antibody production resulting in recurrent bacterial infections. Delay in diagnosis and inadequate treatment result in increased irreversible complications and mortality. To determine persistent morbidities, mortality rate and survival in Iranian patients with CVID, hospital records of 72 (39 males and 33 females) diagnosed CVID patients were reviewed. Probabilities of survival after diagnosis of CVID were estimated from Kaplan-Meier life tables. Studied patients were enrolled over a 20-year period (1984-2005). The most commonly observed complication was bronchiectasis (24 cases), followed by splenomegaly, intestinal villous atrophy (11 cases), and failure to thrive (10 cases). Post-diagnosis survival was estimated as 65% for the first 6.5 years, which remains the same until 14 years after diagnosis when the survival curve drops to nearly 45%. The mortality rate among patients who had no regular visits and did not receive periodical IVIG was more remarkable when compared with those who had been followed up timely (p-value = 0.001). The most common cause of death was respiratory failure. Based on our observation, it can be highlighted that all patients with CVID, even under regular immunoglobulin replacement, need close monitoring for early detection of complications and introduction of appropriate management.

Adolescent↗

PubMed2006

Molecular basis of common variable immunodeficiency.

Common variable immunodeficiency (CVID) is the most prevalent human primary immunodeficiency requiring medical attention. Until recently, the only known genetic defect specific to CVID was the inducible costimulatory receptor (ICOS) deficiency, which accounts for less than 1% of the patients. Recently, mutations in the TNF receptor family member transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), which mediates isotype switching in B cells, were found to be present in 10% to 20% of patients with CVID. Mutations in TACI were also found in relatives of patients with CVID who had IgA deficiency (IgAD), as well as in a patient with isolated IgAD. In the majority of patients described to date, only one TACI allele is mutated, showing an autosomal dominant transmission of the disease. B cells from individuals with TACI mutations did not produce IgG and IgA in response to the TACI ligand a proliferation-inducing ligand (APRIL), probably reflecting impaired isotype switching. These results suggest that TACI mutations can lead to CVID and IgAD.

Animals↗

PubMed1998

IL-10 production in common variable immunodeficiency.

Common variable immunodeficiency, (CVI) is a heterogeneous primary immunodeficiency disease in which there are T and B cell defects. Since IL-10 in conjunction with anti-CD40 promotes secretion of IgG, IgA, and IgM by CVI B cells, these studies were performed to investigate IL-10 production in CVI. Mitogen or anti-CD3 stimulated CVI peripheral blood mononuclear cells, or isolated T cells produced an insignificant amount of IL-10 over background levels. CVI monocyte IL-10 production was substantial and greater than that of normal controls. Anti-IL-10-neutralizing antibody strongly enhanced CVI T cell proliferative responses to PHA, but only to an insignificant extent, soluble antigens. IL-2 plus anti-IL-10 enhanced CVI proliferative responses to antigens significantly more over baseline than for cells of similarly tested normal controls. These data suggest that CVI T cell secretion of IL-10 is deficient, but that monocyte-derived IL-10, plus a relative lack of IL-2 production, could contribute to the defects of cell proliferation in this disorder.

Adolescent↗

PubMed2002

Myofibroblastic tumors involving bilateral adrenal glands and skin in a patient with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a heterogeneous form of primary immune deficiency characterized by hypogammaglobulinemia, recurrent bacterial infections, and various immunologic abnormalities. In addition to recurrent infections, patients with this syndrome have an increased incidence of autoimmune diseases and malignancy. A patient with CVID in whom myofibroblastic tumors affecting both adrenal glands and skin is presented.

Adolescent↗

PubMed2001

Long-term low-dose IL-2 enhances immune function in common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a primary immunodeficiency disease characterized by hypogammaglobulinemia and lack of antibody production. Numerous T cell defects have been described, including reduced gene expression and production of IL-2. Since some of the T cell defects could be explained by lack of IL-2, we have been investigating the effects of in vivo IL-2 treatment. Here, a long-acting form of IL-2, PEG-IL-2, was given for 12-18 months to 15 randomly chosen CVID subjects, in comparison to 39 CVID subjects who served as controls. After 6 to 12 months of treatment, T cell proliferative responses to mitogens and to IL-2 were significantly enhanced; proliferative responses to tetanus and candida antigens increased up to 50-fold. Four of eight subjects immunized with the neoantigen bacteriophage φX 174 displayed increased antibody responses after treatment. Treated subjects recorded reduced, but not overall statistically significant, days of bronchitis, diarrhea, and joint pain. These data indicate that IL-2 might serve as an adjuvant to therapy in some subjects with CVID, enhancing T cell functions and reversing T cell anergy in most.

Adolescent↗

PubMed2004

ICOS deficiency in patients with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is the most frequent clinically significant primary antibody deficiency in man, predisposing to recurrent bacterial infections. Recently, we showed that the homozygous loss of the inducible costimulator (ICOS) on activated T cells may result in an adult onset form of CVID with autosomal recessive inheritance (AR-CVID). We screened 181 sporadic CVID patients and 13 CVID patients from nine families with AR-CVID for mutations in ICOS by genomic DNA sequencing. In the AR-CVID families, the genomic integrity of the ligand for ICOS (ICOS-L) was also evaluated. In two of the nine AR-CVID families, we identified five individuals with ICOS deficiency, carrying the identical large genomic deletion of ICOS as previously described. In the remaining seven AR-CVID families, we subsequently sequenced the coding region of the ICOS ligand but found no mutations. The incidence of ICOS deficiency among patients with CVID is less than 5%. Worldwide, there are now a total of nine patients diagnosed with ICOS deficiency most likely due to a common founder. ICOS-L deficiency could not be identified in families with AR-CVID.

Adolescent↗

PubMed2001

Respiratory disorders in common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a heterogeneous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, and various immunologic abnormalities. The clinical presentation is generally that of recurrent pyogenic sinopulmonary infections. Our objectives were to study the prevalence of lung involvement and the response to intravenous immunoglobulin replacement therapy in 19 patients with CVID. Nineteen patients (12 men) with a mean age (SD) of 33.1 (17.1) years had a previous diagnosis of CVID and were treated with intravenous immunoglobulin replacement. All patients underwent complete pulmonary function tests and high-resolution computed tomography (HRCT) examination. Bronchiectasis was diagnosed in 11 (58%) patients and eight (42%) were multi-lobar bronchiectasis. Chronic airflow limitation (CAL) was present in 10 (53%) patients and a restrictive pattern was seen in one case. Eleven patients (58%) presented a decrease in single-breath carbon monoxide diffusing capacity of the lung (DL(CO)). Before intravenous immunoglobulin replacement therapy (INIRT), 84% of patients had suffered from at least one episode of pneumonia. Episodes of lower respiratory tract infection decreased significantly from 0.28 per patient and year before replacement therapy to 0.16 per patient and year after treatment. The mean duration of replacement therapy was 7.5 years. In conclusion lung involvement was frequent in patients with CVID. Long-term administration of intravenous gammaglobulin resulted in a substantial reduction of pneumonic episodes.

Adolescent↗

PubMed1994

Tumor necrosis factor and intravenous gammaglobulins in common variable immunodeficiency.

Common variable immunodeficiency (CVI) patients require regular intravenous immunoglobulin substitution therapy (IVGG). We studied eight patients; four of whom had adverse reactions to IVGG, and found that those coincided with elevated tumor necrosis factor-alpha (TNF-alpha) levels during infusion. Those reactions and TNF production were abolished by switching from one IVGG preparation to another in two patients. Reappearance of adverse reactions after switching preparation was preceded by a progressive rise in peak TNF levels in one patient.

Adolescent↗

PubMed1996

[Common variable immunodeficiency].

Common variable immunodeficiency (CVI) is a heterogeneous syndrome characterized by defective antibody formation, resulting in abnormally low serum immunoglobulin levels. Clinical presentation usually includes recurrent infections of the respiratory tract, mostly induced by capsular bacteria. Patients are also highly prone to Giardia lamblia infections and related gastrointestinal disorders, as well as to a variety of autoimmune diseases which appear in approximately 20% of them. In addition, CVI can be frequently associated with a non-Hodgkin lymphoma or gastric carcinoma. In spite of its relatively frequent occurrence, the pathogenesis of CVI still remains poorly defined. In this review the authors describe clinical features, immunological abnormalities and replacement treatment with intravenous immunoglobulins of this antibody deficiency syndrome.

Autoimmune Diseases↗

PubMedDate not supplied

Chronic inflammatory bowel disease in a patient with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a primary defect of the immune system involving an increased risk of respiratory and digestive tract infections and autoimmune diseases. Recently, it has been reported that chronic inflammatory bowel disease (CIBD) might occur with increased frequency (20%) in patients with CVID. A nine-year-old boy with CVID developed CIBD during follow-up and periodic intravenous immunoglobulin administration. Serum tumor necrosis factor-a concentration, which is suggested to show disease activity in CBD, was very high. The patient's radiological evaluation, both in active and remission periods, had characteristic features of CBD. We herewith present and discuss this case with both diseases, CVID and CIBD.

Child↗

PubMed2004

Simultaneous nonparotid cranial mucosa-associated lymphoid tissue lymphoma and common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a condition characterized by low levels of immunoglobulin (Ig) G and either IgA or IgM in the presence of recurrent infections. This disorder is associated with an increased risk of malignancy. Mucosa-associated lymphoid tissue (MALT) lymphoma is a recently recognized form of non-Hodgkin's lymphoma that is not often present in the head. MALT lymphoma in patients with CVID is rare, and until now, it has not been reported in a cranial location outside of the parotid gland. We report the cases of 2 patients who had CVID and cranial MALT lymphoma outside of the parotid gland, and we describe their successful treatment with chemotherapy.

Antigens, CD20↗

PubMed1994

Clinical and immunologic studies of common variable immunodeficiency.

Common variable immunodeficiency is a complex primary immuno-deficiency disease that has as its hallmark subnormal amounts of at least two of the three main serum immunoglobulin isotypes. About 45% of cases are diagnosed before the patients reach 21 years of age, but the time of diagnosis may be delayed until even the sixth or seventh decade of life. The main clinical manifestations include sinopulmonary or gastrointestinal infections, autoimmunity, and neoplasia. The molecular defects of this disease are unknown and may involve intrinsic B-cell or T-cell defects, or both. At present, the mainstay of treatment is intravenous immunoglobulin, but experimental methods have shown that other in vivo methods might ultimately be found to ameliorate this immune deficiency disease.

Child↗

PubMed2006

[Late complications of chronic respiratory infections in patients with common variable immunodeficiency].

Common variable immunodeficiency (CVID) is the most frequent serious humoral deficiency manifested in adulthood in the form of acute and chronic respiratory infections which in most patients lead to respiratory failure. Retrospective analysis of 28 CVID patients was made. Mean age at time of diagnosis was 38.6 +/- 18.6 years. The time which elapsed from the first symptoms to determining the diagnosis was three times as long as that indicated in other studies, i.e., 14.1 +/- 10.2 years. Twenty-three patients (82.1%) had respiratory complications. Chronic obstructive pulmonary diseases, n=16 (57.1%), and bronchiectasis, n=10 (35.7%), were the most frequent types of lung damage. In addition, two patients (7.1%) displayed evidence of interstitial lung process. Morbidity associated with CVID can be reduced by early diagnosis and adequate dosage of immunoglobulins to minimise the occurrence and progression of lung damage.

Adolescent↗

PubMed2005

Immune competence and switched memory B cells in common variable immunodeficiency.

Common variable immunodeficiency (CVID) is presumed to be a heterogenous group of disorders with potentially separate etiologies. Memory B cell subsets, characterized by CD27 expression, have been suggested as a means to subclassify CVID patients. 53 patients were subdivided based on percentages of switched memory B cells (CD27+IgM-IgD-): 33 were placed in Group I (<0.4% CD27+IgM-IgD- cells/peripheral lymphocytes) and 20 in Group II (>0.4%). The median serum IgG for subjects in Group I was lower at 145 mg/dl vs. 329.5 mg/dl for Group II (P=0.038). Post-pneumococcal vaccine IgG response was tested; the median protective response was 0.5 serotypes for Group I and 3 serotypes for Group II (P=0.041). Autoimmune and granulomatous disease was found in higher rates in Group I. CVID patients with decreased percentages of switched memory B cells have lower levels of serum IgG, less effective pneumococcal vaccine antibody responses, and higher rates of autoimmune and granulomatous disease.

Adolescent↗

PubMed2005

Normal ICOS, ICOSL and AID alleles in Danish patients with common variable immunodeficiency.

Common variable immunodeficiency, CVID, is a primary antibody deficiency characterized by decreased levels of serum immunoglobulin G (IgG), decreased IgA and/or IgM and recurrent infections. It is assumed to be heterogeneous group of disorders caused by different genetic defects. Some patients have decreased levels of class switched memory B cells and/or decreased levels of somatic hypermutation which points to defects in the germinal centre (GC) reactions as cause of the disease in these patients. The inducible costimulator, ICOS, and its' ligand, ICOSL, are both involved in and necessary for the GC reaction and so is activation-induced cytidine deaminase, AID. Therefore, we sequenced the ICOS, ICOSL and AID genes in a cohort of 34 Danish CVID patients. We found 13 new single nucleotide polymorphisms (SNP) in the intron regions of the ICOSL gene as well as one SNP in exon 3. However, none of these polymorphisms were associated with CVID. We did not find a previously reported CVID-causing ICOS gene deletion or any other unique mutations in the ICOS or AID genes.

Adolescent↗

PubMed2004

Clinical and laboratory aspects of common variable immunodeficiency.

Common variable immunodeficiency (CVID) is an immunological disorder characterized by defective antibody production, recurrent infections, most notably of the respiratory tract, autoimmune phenomena and cancer. Some CVID patients may also present disturbances of the cellular immune response such as a decrease in the number and proportion of different lymphocyte populations, diminished lymphoproliferative response to mitogens and antigens, altered production of cytokines, and deficient expression of cell-surface molecules. Most Brazilian CVID patients included in this study show a decrease in T and B lymphocyte counts in the peripheral blood. Furthermore, their lymphocytes are more susceptible to apoptosis following activation than normal individuals, and they have a decrease in the expression of activation molecules like CD25, CD69, CD40L and CD70. Moreover, they show a decreased synthesis of IL-4 and IL-5 in comparison with normal individuals. The increase in susceptibility to apoptosis following activation, may also be responsible for the decrease in the expression of activation molecules and CD40L, decrease in Th2 cytokines synthesis, and in the number of T and B circulating cells. In this study we discuss some of these immunological disturbances correlating them to the patients' clinical features and comparing our patients' findings to the literature.

B-Lymphocytes↗

PubMed2000

Impaired antibody affinity maturation process characterizes a subset of patients with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is an heterogeneous syndrome characterized by decreased levels of serum Ig and recurrent bacterial infection. Here, we were interested to study whether a qualitative defect of the affinity Ab maturation process could be combined to the low level of serum Ig in a cohort of 38 CVID patients. For this, we designed a novel and rapid screening test for the detection of hypomutated V gene expressed by memory B cells. This test delineated a subset of 9/38 (23%) CVID patients with an abnormal pattern of Ig V gene mutation. The mean frequency of V gene mutation of this subset was significantly lower (1.74%) compared with other CVID patients (5.46%) and normal donors (6.5%) (p<0.0001). The mean age of this subgroup was significantly higher than other hypogammaglobulinemic patients with normal levels of V gene mutation (p<0.02), whereas no difference in the duration of symptoms was noted between the two groups. This suggests that hypomutation characterizes patients who began CVID late in life. Recently, it was shown that non-Ig sequences, such as the intronic BCL-6 gene, could be the target of the somatic hypermutation process in normal memory B cells. Our finding of a normal mutation frequency of the BCL-6 gene in two hypomutated CVID point to a defect of the Ig targeting of hypermutation machinery in these cases.

Adult↗