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Results for “Common Variable Immunodeficiency”

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PubMed1991

T and B cell defects in common variable immunodeficiency.

More than 50 patients with common variable immunodeficiency have been classified into 5 groups representing different blocks in B cell function. To do this, B cells were assessed in vitro by secretion of IgM or IgG in response to anti-IgM and IL-2 or to EBV alone. Some clinical features and the patients' sex ratio correlated with this B cell classification. In vitro attempts were made to identify and overcome these blocks using physiological ligands (e.g. cytokines), and agents that induce transcription (e.g. retinoic acid). The patient group with the most severely affected B cells also contained some patients whose T cells showed depressed DNA synthesis in response to mitogens. In vitro data indicate that the abnormality may be in the T cell itself rather than in monocytes failing to provide essential cytokines (e.g. IL-6). In 3 patients, splenic B cells were able to secrete IgM more effectively than circulating B cells, but still they produced no IgG.

B-Lymphocytes↗

PubMed1991

[Digestive manifestations of common variable immunodeficiency].

We present 4 cases of common variable immunodeficiency with main digestive clinical manifestations. In all four cases chronic diarrhea with intestinal malabsorption predominated, as well as the presence lymphoid nodular hyperplasia; in one case Giardia infestation could be identified; one patient also presented chronic pancreatitis, or recurrent aphthous stomatitis and active chronic hepatitis; sideroblastic anemia could be observed in another patient. All patients had favorable evolution during follow-up which lasted at least 14 months in substitutive treatment with immunoglobulins. One of our patients presented an elevated number of suppressor T lymphocytes, with inversion of the T helper/T suppressor ratio which improved with cimetidine treatment.

Adult↗

PubMed1988

Common variable immunodeficiency--a case report and review.

Common Variable Immunodeficiency is a rare primary immunodeficiency presenting usually in young adults with repeated sinopulmonary infections as a result of profound hypogammaglobulinemia. A clinical report of the first documented patient in this region is presented along with a brief review of the recent advances made especially in understanding pathogenesis and management of patients with this disorder.

Adult↗

PubMedDate not supplied

Common variable immunodeficiency, insulin-dependent diabetes mellitus and celiac disease.

Common variable immunodeficiency is a disorder characterised by hypogammaglobulinemia with B-lymphocytes in peripheral blood and repeated infections. We report a child with a diagnosis of diabetes mellitus and celiac disease during lactation, and in whom common variable immunodeficiency was diagnosed at the age of 5. During evolution of the disease he presented multiple respiratory infections in spite of substitution therapy with gamma globulins. He presented pulmonary fibrosis with a pulmonary volume reduced, and a spirometric restrictive patron. Immunologically, he presents reduction in CD4 lymphoid population. He expresses the alleles DQ2 A1 0501 and B1 which are strongly associated with susceptibility to insulin-dependent diabetes mellitus and celiac disease, but don't express antigens HLA class II DR3 and DR4 that are more frequent in these entities. The main disease and all the complications had affected his curve pondostatural.

Adolescent↗

PubMed1994

Common variable immunodeficiency (CVID) in northern India.

Fourteen patients with common variable immunodeficiency (CVID) were studied. The common clinical manifestations were recurrent sore throat, sinusitis, respiratory infections, diarrhea, and malnutrition. All had low IgG, with normal cell-mediated immunity. Treatment with immunoglobulin and/or plasma was effective in most of them. There were no severe adverse events with the therapy.

Adolescent↗

PubMed2000

Retinal vasculitis occurring with common variable immunodeficiency syndrome.

PURPOSE: To report severe retinal vasculitis causing decreased vision in three patients with the common variable immunodeficiency syndrome. METHOD: Case report. Three patients with common variable immunodeficiency syndrome developed decreased vision secondary to retinal vasculitis. Fluorescein angiography was performed in all three patients. Peribulbar injections were given in one patient, and two patients were treated with oral steroids and cyclosporin. RESULTS: All three patients were young and had classic common variable immunodeficiency syndrome. Bilateral retinal vasculitis and diffuse retinal edema were present in all three patients, and two patients had retinal neovascularization in the absence of ischemia. No evidence of intraocular infection was present, and none was detected systematically. Visual acuity decreased in five of the six eyes and was responsive to treatment in only one patient (both eyes). CONCLUSION: Retinal vasculitis may be another autoimmune manifestation of common variable immunodeficiency syndrome.

Capillary Permeability↗

PubMed1995

Hodgkin's disease in a patient with common variable immunodeficiency.

A 61 year old man with long standing common variable immunodeficiency presented with pyrexia, anaemia and leucopenia. A diagnoses of Hodgkin's disease of the bone marrow was made. The typical histopathological and immunophenotypic appearances were clearly distinct from those of T cell lymphoma with Reed-Sternberg-like cells which, in contrast to Hodgkin's disease, is a known complication of common variable immunodeficiency. Complete clinical and histological remission was achieved with combination chemotherapy. The latter was complicated by severe myelosuppression, unusually severe erosive mucositis and viral retinitis.

Antineoplastic Combined Chemotherapy Protocols↗

PubMed1993

Recombinant human granulocyte colony-stimulating factor therapy for cyclic neutropenia associated with common variable immunodeficiency.

A 14 year old boy with common variable immunodeficiency (CVID) had regularly recurring episodes of severe infections independently of the serum gamma-globulin level. Serial blood counts revealed that this patient also had cyclic neutropenia. Recently, recombinant human granulocyte colony-stimulating factor (rhG-CSF) was reported to be an effective treatment for this disease. We tried rhG-CSF therapy for this patient and a prompt increase in the neutrophil count was noted. However, the cyclic alterations and duration of the nadir of the neutrophil count were not altered, which suggested that rhG-CSF has a variable efficacy in at least some patients with cyclic neutropenia.

Adolescent↗

PubMed2005

Defective Vav expression and impaired F-actin reorganization in a subset of patients with common variable immunodeficiency characterized by T-cell defects.

Common variable immunodeficiency (CVID) is a primary immune disorder characterized by impaired antibody production, which is in many instances secondary to defective T-cell function (T-CVID). We have previously identified a subset of patients with T-CVID characterized by defective T-cell receptor (TCR)-dependent protein tyrosine phosphorylation. In these patients, ZAP-70 fails to be recruited to the TCR as the result of impaired CD3zeta phosphorylation, which is, however, not dependent on defective Lck expression or activity. Here we show that neither Fyn nor CD45 is affected in these patients. On the other hand, T-CVID T cells show dramatic defects in the Vav/Rac pathway controlling F-actin dynamics. A significant deficiency in Vav protein was indeed observed; in 3 of 4 patients with T-CVID, it was associated with reduced VAV1 mRNA levels. The impairment in Vav expression correlated with defective F-actin reorganization in response to TCR/CD28 co-engagement. Furthermore, TCR/CD28-dependent up-regulation of lipid rafts at the cell surface, which requires F-actin dynamics, was impaired in these patients. The actin cytoskeleton defect could be reversed by reconstitution of Vav1 expression in the patients' T cells. Results demonstrate an essential role of Vav in human T cells and strongly suggest Vav insufficiency in T-CVID.

Actins↗

PubMed2003

[Common variable immunodeficiency: 17 observations in the adult].

PURPOSE: Common variable immunodeficiency (CVID) is an immune defect characterized by primary hypogammaglobulinemia. Most of the time, clinical manifestations that reveal CVID are recurrent bacterial infections, but auto-immune or granulomatous events may occur. METHODS: This retrospective study was conducted on 17 patients fulfilling the classical CVID definition. Lymphocyte activation level was evaluated in 12 patients through HLA-DR expression on lymphocytes subsets. RESULTS: This study includes 17 patients, 7 men and 10 women. The mean age at the first clinical manifestation is 23 years and the mean age at diagnosis is 39 years. Recurrent upper and lower bacterial respiratory tract infections are common to all patients. Abdominal infection due to Mycobacterium avium-intracellulare complex is found in one patient. Digestive events are dominated by chronic diarrhea caused by giardiasis, nodular lymphoid hyperplasia or villous atrophy. Seven patients developed auto-immune conditions (insulin dependent diabetes, idiopathic thrombocytopenic purpura (ITP), rheumatoid arthritis) and 7 patients have a splenomegaly. Non caseating granulomas in the spleen or in lymph node biopsies are found in 3 patients. Ten patients have a T lymphopenia, 2 have a B lymphopenia, 5 have a CD4/CD8 ratio <1, and 6 have T CD4(+) lymphocytes <400/mm(3). The study of HLA-DR expression on lymphocytes subsets shows that 7/12 patients have activated T CD4(+) and/or CD8(+) cells and these patients have auto-immune or tumoral manifestations. The other 5 patients do not have activated T lymphocytes but present with infectious events only. CONCLUSIONS: Our study allows the separation of patients with CVID according to their T lymphocytes activation level. A patient's classification is necessary to define homogeneous groups of patients to perform genetic and functional studies which will probably reveal heterogeneous molecular abnormalities.

Adult↗

PubMed2004

Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii.

Common variable immunodeficiency (CVID) is a heterogeneous immunodeficiency that is accompanied by granulomatous lesions in 5-10% of cases. Why some patients develop granulomatous disease remains unclear. Here we describe a 12-year-old previously healthy girl who presented with pancytopenia and granulomatous lymphoproliferation subsequent to infection with Toxoplasma gondii. Loosely arranged non-fibrosing granulomas were observed in the liver, lymph nodes and lung, but no Toxoplasma tachyzoites could be demonstrated and polymerase chain reaction (PCR) and culture were negative for Toxoplasma and a wide range of other pathogens. While the patient had a normal peripheral B cell status at presentation, the development of CVID could be observed during the following months, leading to a loss of memory B cells. This was accompanied by an increasingly activated CD4(+) T cell compartment and high serum levels of angiotensin-converting enzyme (ACE), tumour necrosis factor (TNF) and sCD25. Steroid therapy reduced pancytopenia, granulomatous lymphoproliferation and cytokine elevations, but did not improve the B cell status. This is the first report of an association of Toxoplasma infection with granulomatous CVID and provides one of the rare examples where the onset of CVID could be documented subsequent to an infectious disease.

Acute Disease↗

PubMed1996

Serum Gm allotype levels in common variable immunodeficiency: preponderance of homozygous G2m(",") on IGHCG2.

Common variable immunodeficiency (CVI) is one of the most frequent primary immunodeficiency diseases, characterized by defective antibody formation and associated with chronic sinopulmonary infections, autoimmunity and malignancies. The genes for the constant heavy chains of IgG are located on chromosome 14 and were further studied by identifying allelic, alternative Gm allotypes. These were defined by different epitopes for three of the IgG subclasses, G1m(a) and G1m(f) for IgG1, G2m(n) and G2m(") for IgG2 and G3m(g) and G3m(b) for IgG3. A sensitive competitive ELISA method for quantitation of the Gm allotypes G1m(a), G1m(f), G2m(n) and G3m(b) were used together with radial immunodiffusion IgG subclass quantitation. The dominating number of 25 of 33 patients (p < 0.001) expressed the homozygous G2m(",") allotype on IGHCG2 in combination with homozygous or heterozygous Gm allotypes on IGHCG1 and IGHCG3, namely Gm(f,f;",";b,b), Gm(a,a;",";g,g) and Gm(f,a;",";b,g). Studies of Gm allotype quantities revealed a progressive sequential impediment of the programmed cascade for downstream IGHCG gene rearrangements. According to the order of the IGHCG genes, the G3m allotype levels from the IGHCG3 were often normal, and G1m allotype levels from IGHCG1 were suppressed; G1m(a) was suppressed more than G1m(f), and most suppressed were G2m allotype levels from IGHCG2, both G2m(n) and G2m("). The susceptibility of CVI is associated to G2m(",") expression from the IGHCG2 locus on chromosome 14, which has also been found in IgA IgG subclass deficiency, conditions known among first-degree relatives.

Adult↗

PubMed2003

Impaired secretion of IL-10 by T cells from patients with common variable immunodeficiency--involvement of protein kinase A type I.

Common variable immunodeficiency (CVID) is a heterogeneous group of B cell deficiency syndromes. T cell abnormalities are present in a high proportion of patients with CVID, suggesting impaired T cell-mediated stimulation of B cells. Based on the importance of IL-10 for B cell function and the involvement of the cAMP/protein kinase A type I (PKAI) system in IL-10 synthesis, we examined IL-10 secretion in T cells from CVID patients and controls, particularly focusing on possible modulatory effects of the cAMP/PKAI system. Our main findings were: 1) anti-CD3 and anti-CD3/anti-CD28 activated T cells from CVID patients secreted less IL-10 than healthy controls. This defect was not related to varying proportions of T cell subsets (e.g., CD4(+)/CD8(+), CD45RA(+)/RO(+), or CD28(-) T cells); 2) PKAI activation through the cAMP agonist 8-CPT-cAMP markedly inhibited IL-10 secretion from T cells through CD3 and CD28 activation in both patients and controls, but the sensitivity for cAMP-dependent inhibition was increased in CVID; 3) selective PKAI inhibition by Rp-8-Br-cAMPS markedly increased IL-10 secretion in anti-CD3 and anti-CD3/anti-CD28-stimulated T cells in both patients and controls. Even at the lowest concentrations of Rp-8-Br-cAMPS, IL-10 secretion in CVID patients reached levels comparable to those in controls. Our findings suggest impaired secretion of IL-10 by T cells from CVID patients, suggesting a possible link between T cell deficiency and impaired B cell function in CVID. The involvement of the cAMP/PKAI system in this defect suggests a novel target for therapeutic immunomodulation in CVID.

8-Bromo Cyclic Adenosine Monophosphate↗

PubMed2006

Common variable immunodeficiency: The power of co-stimulation.

Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immune deficiency in adults. CVID is characterized by the sequelae of an antibody deficiency syndrome: an impaired terminal B cell differentiation results in hypogammaglobulinemia and susceptibility to recurrent infections by encapsulated bacteria. The clinical course of CVID is complicated by a plethora of systemic immunopathology, including autoimmunity, lymphoproliferation, malignancy and sarcoid-like granulomas. Phenotypic and functional studies in CVID patients revealed multiple abnormalities within the innate and adaptive immune system. The recent description of monogenic defects in ICOS, TACI and CD19 focussed our interest to an impaired T cell-B cell collaboration within the germinal center and intrinsic B cell defects as possible explanations for the etiology of CVID.

Animals↗

PubMed2007

Pulmonary complications of common variable immunodeficiency.

OBJECTIVES: To review pulmonary complications of common variable immunodeficiency (CVID) and summarize data available on the use of replacement antibody treatment to protect against lung changes. DATA SOURCES: Relevant articles regarding CVID and pulmonary disease identified from PubMed and reference lists of review articles. STUDY SELECTION: Key articles were selected by the authors. RESULTS: Patients with CVID often develop acute sinopulmonary infections that can lead to chronic airway inflammation, which can produce substantial morbidity and mortality. Replacement immunoglobulin treatment significantly reduces the reoccurrence of lower airway infections, but the effect on the development of chronic lung damage is not yet clear. Screening examinations, such as pulmonary function testing and high-resolution computed tomography of the chest, can be used to evaluate pulmonary status. Patients with abnormal findings may benefit from more aggressive treatment, including larger doses of immune globulin and the use of prophylactic antibiotics. CONCLUSIONS: Pulmonary complications present a significant comorbidity in CVID; monitoring may indicate which patients require more aggressive treatment.

Anti-Bacterial Agents↗

PubMed2006

Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy.

Common Variable Immunodeficiency (CVID) patients who are seropositive for anti-IgA antibodies have a predisposition for anaphylactoid reactions to intravenous immunoglobulin replacement therapy (IVIG). Among 88 CVID patients, we identified eight with IgG anti-IgA antibodies (9%). All eight completely lacked IgA (<0.0009 g/l). Five of them had a history of anaphylactoid reactions to IVIG. However, four of these five patients tolerated subcutaneous immunoglobulin replacement therapy (SCIG). To identify predisposing factors for anti-IgA antibodies and related anaphylactoid reactions, we analyzed the clinical and immunological phenotype of affected patients. All eight IgG anti-IgA-positive patients lacked IgA(+) B cells in peripheral blood. Moreover, CVID patients with retained class-switched CD27(pos) IgM(neg) IgD(neg) memory B cells (Freiburg classification group II) and total IgA deficiency seem to have an increased risk for developing anti-IgA antibodies. In seven of the eight patients, lymphoproliferation was observed (most prominently nodular lymphatic hyperplasia), two had granulomatous disease, and two showed autoimmune phenomena.

Adult↗

PubMed2000

Characterization of the T cell receptor repertoire in patients with common variable immunodeficiency: oligoclonal expansion of CD8(+) T cells.

Common variable immunodeficiency is characterized by an impairment in antibody production of at least two immunoglobulin isotypes, and abnormalities of both B and T cells have also been described. In this study, a profound alteration of the T cell receptor repertoire was noted, especially in CD8(+) T cells, in CVID patients when compared to a control group. However, the higher number of oligoclonally expanded populations seen in the patient group was not dependent on age, whereas in the control group an age-related accumulation of these populations was noted. Expansion of CD8(+) CD28(-) T cells in these patients is strongly correlated with T cell receptor repertoire restriction. Furthermore, analysis of cytokine production showed a statistically significant increase in IFN-gamma secretion in the patient group. Lastly, CD94 and perforin were expressed at increased frequencies on CD8(+) T cells in the patient group when compared to the control group. We speculate that these findings support the concept that CD8(+) T cells may play an important regulatory role in CVID.

Adult↗

PubMed2006

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

The phenotype of common variable immunodeficiency (CVID) is characterized by recurrent infections owing to hypogammaglobulinemia, with deficiency in immunoglobulin (Ig)G and at least one of IgA or IgM. Family studies have shown a genetic association between CVID and selective IgA deficiency (IgAD), the latter being a milder disorder compatible with normal health. Approximately 20-25% of CVID cases are familial, if one includes families with at least one case of CVID and one of IgAD. Nijenhuis et al described a five-generation family with six cases of CVID, five cases of IgAD, and three cases of dysgammaglobulinemia. We conducted a genome-wide scan on this family seeking genetic linkage. One interval on chromosome 4q gives a peak multipoint LOD score of 2.70 using a strict model that treats only the CVID patients and one obligate carrier with dysgammaglobulinemia as affected. Extending the definition of likely affected to include IgAD boosts the peak multipoint LOD score to 3.38. The linkage interval spans at least from D4S2361 to D4S1572. We extended our study to a collection of 32 families with at least one CVID case and a second case of either CVID or IgAD. We used the same dominant penetrance model and genotyped and analyzed nine markers on 4q. The 32 families have a peak multipoint LOD score under heterogeneity of 0.96 between markers D4S423 and D4S1572 within the suggested linkage interval of the first family, and an estimated proportion of linked families (alpha) of 0.32, supporting the existence of a disease-causing gene for autosomal-dominant CVID/IgAD on chromosome 4q.

Chromosomes, Human, Pair 4↗