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Results for “Common Variable Immunodeficiency”

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[Overwhelming course of HCV disease in patients with hypogammaglobulinemia associated with cellular immunity deficiency].

Knowledge of the physiopathological basis of the fibrogenesis in the hepatopathy by hepatitis C virus (HCV) is critical. We describe the evolution of the infection by HCV after a ten-year follow-up in patients with antibody immunodeficiency (common variable immunodeficiency (n=3) (IDVC), IgG subclasses deficiency (n=2), specific deficiency of antibodies formation (n=1). The patients were treated with a prepared intravenous immunoglobulin that was associated later with an HCV hepatitis outbreak. Five of the six patients had a positive overwhelming course (CRP) for HCV and all have changes in their hepatic biochemistry during the exposure period [ Analine Aminotransferase (ALT) (from 280 to 2720 U/L) and Aspartate Aminotransferase (AST) (from 400 to 2600) U/L)]. In less than one year, two patients with IDVC developed cirrhosis and the other patient with IDVC, an active chronic hepatitis while the other patients cured the infection without the treatment. The patients with IDVC presented lower IgG levels than the patients with antibodies deficiency before the exposure (average: seric IgG = 697 mg/dl and 1480 mg/dl respectively) and had, in addition, lower T CD4+ lymphocytes [average: T CD4+ lymphocytes = 22% (413 x 106 cells/l) and 33% (869 x 106 cells/l) respectively)]. One combination of components of humoral and cellular immunodeficiency could play a role in the accelerated evolutive course of the hepatopathy by HCV in patients with IDVC.

Adult↗

PubMed1975

Primary immunodeficiency diseases and malignancy.

The incidence of malignant tumors in the primary immunodeficiency diseases is dramatically increased. Four patients with primary immunodeficiencies who developed fatal malignancies are reported. Lymphoreticular tumors and leukemia predominate in most conditions, but epithelial neoplasms are the most common tumors in selective Iga deficiency, and they comprise over one-fourth of malignancies in common variable immunodeficiency. With the exception of common variable immunodeficiency and the Wiskott-Aldrich syndrome, hyperplasia of lymphoid tissue usually does not occur. Lymph node enlargement in any of the other immunodeficiencies is therefore most likely secondary to malignancy. Benign gastrointestinal nodular lymphoid hyperplasia occurs frequently in common variable immunodeficiency and in some instances may be impossible to differentiate roentgenologically from lymphoma.

Adenocarcinoma↗

PubMed2005

Tackling the heterogeneity of CVID.

PURPOSE OF REVIEW: Common variable immunodeficiency is clinically the most relevant primary immunodeficiency of the adult. Its heterogeneity has hindered progress in the pathogenetic understanding of the majority of common variable immunodeficiency patients. This abstract summarizes recent aspects of the field and emphasizes the need for a commonly accepted approach to classify common variable immunodeficiency. RECENT FINDINGS: In the last 2 years, the first genetic defects underlying common variable immunodeficiency, including ICOS, TACI, BAFF-R and CD19, have been identified. The analysis of dendritic cells demonstrated alterations in a majority of patients in addition to the disturbed T and B-cell function. Several changes of the adaptive immune system might be secondary to an underlying chronic inflammatory setting possibly due to a HHV8 infection in a subgroup of patients with granulomatous disease, autoimmune phenomena and T-cell dysfunction. The occurrence of granulomatous inflammation is associated with a worse prognosis compared with common variable immunodeficiency patients without granuloma. SUMMARY: The pathogenesis of common variable immunodeficiency includes disturbances of the adaptive as well as innate immune system. Identified monogenic defects account for about 10% of cases, leaving the majority of defects undefined and certainly in part epigenetic. To combine the known aspects of the pathogenesis of common variable immunodeficiency to a conclusive picture, the clinical and immunologic phenotyping of patients needs to be standardized.

Autoimmunity↗

PubMed2000

Common-variable immunodeficiency-related lymphomas associate with mutations and rearrangements of BCL-6: pathogenetic and histogenetic implications.

Common-variable immunodeficiency (CVI) patients develop non-Hodgkin's lymphomas (NHL), mainly B-lineage diffuse large-cell lymphomas (DLCL), with a high relative risk. The molecular pathogenesis of CVI-related NHL (CVI-NHL) is unknown. Here we aimed at providing a detailed molecular characterization of CVI-NHL. Rearrangements of BCL-6 were detected in two thirds of CVI-NHL cases examined. All 3 CVI-NHL also harbored point mutations of the BCL-6 5' noncoding regions, which constitute a marker of B-cell transit through the germinal center (GC). The number and molecular pattern of BCL-6 mutations in CVI-NHL were similar to that detected in DLCL of immunocompetent hosts and in DLCL arising in other immunodeficiency settings. Microsatellite instability occurred in one CVI-NHL devoid of a BCL-6 rearrangement. All CVI-NHL scored negative for genetic lesions of BCL-2, p53, c-MYC, REL as well as for viral infection by EBV and HHV-8. Overall, these data indicate that: similarly to other immunodeficiency-related NHL, involvement of BCL6 occurs frequently also in CVI-NHL; and because BCL-6 mutations are acquired by B cells during GC transit, their occurrence in CVI-NHL suggest that these lymphomas are histogenetically related to GC B cells.

Adult↗

PubMed2002

Effect of intravenous immunoglobulins on in vitro immunoglobulin formation in patients with antibody immunodeficiency.

Seventeen patients with antibody immunodeficiency (9 subclass IgG immunodeficiencies, 8 common variable immunodeficiencies) and clinically unambiguous immunodeficiency symptomatology participated in the study with 14 healthy donors. The patients were given regular intravenous immunoglobulin (IVIG) infusions with Endobulin. Blood was collected before and 7 days after infusion of the usual IVIG dose. Mononuclear cells were isolated from peripheral blood (PBMC) of the patients by Ficoll-Paque gradient centrifugation. In order to monitor the ability to inhibit or activate polyclonal production of immunoglobulins in vitro, we stimulated PBMC with pokeweed mitogen (PWM) and with a mixture of pokeweed mitogen + concanavalin A (PWM+ConA). We found that an immunomodulatory effect of IVIG persists in vitro even one week after infusion. Polyclonally stimulated IgA and IgM production was suppressed by IVIG infusion mainly in patients with IgG subclass deficiency. The positive stimulatory effect of IVIG infusion on IgG production was confirmed. The IgG production increased in vitro after infusion in both groups of patients and was significantly higher than in healthy donors. Co-stimulation of PWM-stimulated cells with ConA caused an inhibition of immunoglobulin release in normal healthy donors. The infusion supported the capability of ConA to inhibit IgG production in vitro in patients with IgG subclass deficiency, whereas an increase in IgG production with PWM+ConA stimulation after infusion was found in CVID patients. We assume that lymphocytes activated by ConA produce suppressive factors, which can be affected by the IVIG infusion and which can have both an immunostimulatory and an immunosuppressive effect.

Adult↗

PubMed2002

Hematologic complications of primary immune deficiencies.

Primary immune deficiencies have an estimated overall incidence of 1 in 10,000 individuals. These disorders are diverse, depending on the specific immune functions involved, and lead to chronic or recurrent infections, inflammatory conditions, and a variety of autoimmune diseases. The most common autoimmune disorder is immune thrombocytopenic purpura (ITP), followed by autoimmune hemolytic anemia (AHA). While cytopenias are common in all the congenital immune diseases, they are particularly common in the antibody defects, common variable immunodeficiency and selective immunoglobulin A deficiency. In common variable immunodeficiency, ITP occurred in 7.6% of the patients and AHA in 4.8%. Treatment options include corticosteroids, intravenous immunoglobulin (i.v.Ig), anti-D, and splenectomy. Although the association between cytopenias and congenital immune deficiency is unclear, defects in T-cell regulation, cytokine defects, abnormal apoptosis, and abnormal production of immunoglobulins with autoimmune features are potential mechanisms.

Autoimmunity↗

PubMed1981

Subpopulations of human T lymphocytes. XVIII. T lymphocytes with receptors for IgE (T epsilon) in patients with primary immunodeficiency and hyperimmunoglobulinaemia E states.

Four of 18 patients with common variable immunodeficiency and one of eight patients with selective IgA deficiency had increased proportions of T epsilon cells. Three patients with common variable immunodeficiency and two with selective IgA deficiency had increased numbers of T epsilon cells. Three patients with common variable immunodeficiency had decreased numbers of T epsilon cells. Five of six patients with hyperimmunoglobulinaemia E had high proportions of T epsilon cells; this increase was not related to the elevated IgE levels.

Adolescent↗

PubMed1997

[Cancer and primary humoral immunodeficiency].

The occurrence of cancers in patients with primary humoral immunodeficiency syndrome (X-linked agammaglobulinemia, common variable immunodeficiency, IgA deficiency) is more than mere coincidence. An increased risk of non Hodgkin's lymphoma and gastric adenocarcinoma, particularly for patients with common variable immunodeficiency, is well established. A literature review is presented on this subject with analysis of case reports, prospective and retrospective studies, and data from the Minnesota Immunodeficiency Cancer Registry.

Agammaglobulinemia↗

PubMed1999

Immediate hypersensitivity in adults with IgG deficiency and recurrent respiratory infections.

BACKGROUND: Little is known about the prevalence of atopy in adults with recurrent respiratory infections and IgG deficiency. OBJECTIVE AND METHODS: To elucidate this aspect, we skin-tested 95 consecutive adults with respiratory infections, subnormal levels of IgG subclasses or common variable immunodeficiency and usually poor response to vaccination. In 50 subjects we also measured total IgE. RESULTS: We found 67 subjects with IgG subclass deficiency, 21 subjects with mild (partial) and 5 with usual common variable immunodeficiency, and 2 subjects with functional IgG deficiency. Atopy was encountered in 42/95 subjects, 33/44 (75%) with asthma, 7/19 (38%) with isolated rhinosinusitis, 1/27 (4%) with chronic obstructive lung disease, and 1/5 (20%) with both the latter disease and asthma, respectively. Atopy was preferentially clustered in subjects with asthma (P < .05) who were less than 40 years of age (P < .05) and nonsmoking. Atopy was not affected by the type of IgG deficiency, unless it was usual common variable immunodeficiency, in which case the skin tests tended to be negative (4/5). Total IgE was within normal range but less elevated than usually seen in asthma or chronic obstructive lung disease. Total IgE was independent of the type of IgG deficiency, except for usual common variable immunodeficiency in which it remained < 10 IU/mL. CONCLUSIONS: In adults with symptomatic IgG deficiency, the prevalence of immediate hypersensitivity and its modulation by age and smoking are similar to the referred, non-IgG deficient population; however, total IgE may be lower in the former than in the latter. In common variable immunodeficiency, consistent with the literature data, both the prevalence of atopy and serum total IgE are decreased.

Adult↗

PubMed2002

Gastrointestinal Manifestations of Non-AIDS Immunodeficiency.

Most primary immunodeficiencies are diagnosed in children and, therefore, are managed by pediatricians and pediatric specialists. Generally, internists and adult gastroenterologists only rarely encounter patients with primary immunodeficiency, and have little or no involvement in actual treatment. However, gastroenterologists should be familiar with primary immunodeficiency because 1) current and future therapy for immunodeficiency will allow more patients to survive into adulthood, 2) some primary immunodeficiencies, particularly common variable immunodeficiency, may have their first clinical manifestation in adolescence or early adulthood, and 3) recently it has been hypothesized that Crohn's disease may be an immunodeficiency. Detailed treatment recommendations are not included in this review, as subspecialists in pediatrics, immunology, and hematology manage such treatments. Of far greater importance, even in this treatment-oriented forum, is the enhancement of our awareness of these disorders.

Journal Article↗

PubMed1991

Soluble Fc epsilon R II levels in normal children and patients with immunodeficiency diseases.

CD23 is expressed on mature B cells and is identical to a low-affinity IgE Fc epsilon receptor type II (Fc epsilon R II). The C terminal portion of CD23 is released to the serum as soluble Fc epsilon R II (sFc epsilon R II), which may be involved in regulation of IgE synthesis. We studied sFc epsilon R II levels in normal children and in patients with immunodeficiencies, including common variable immunodeficiency (CVI), partial DiGeorge syndrome, and immunodeficiency associated with ectodermal dysplasia to examine the relationship of sFc epsilon R II levels to B cell numbers and other immunoparameters. Serum Fc epsilon R II levels are higher in younger children (younger than 3 years) and decline gradually with age. In 11 patients with CVI with normal numbers of B cells (greater than 6%), sFc epsilon R II levels were comparable to that of control subjects. Five patients with CVI with deficiencies of peripheral B cells had levels of sFc epsilon R II similar to levels of control subjects. In all but one patient with partial DiGeorge syndrome, sFc epsilon R II levels were not significantly elevated, despite the presence of elevated peripheral B cell numbers. Of six patients with ectodermal dysplasia, four demonstrated increased Fc epsilon R II levels, a finding not correlated with serum IgE levels or with peripheral eosinophil or B cell numbers.

Adolescent↗

PubMed2001

[IgA deficiency].

Selective IgA deficiency is the most common primary immunodeficiency, with a prevalence of approximately 1/600 in whites. Most subjects are asymptomatic but some may suffer from frequent respiratory and gastrointestinal infections. Patients who suffer from frequent infections usually have a defect in antibody responses toward polysaccharides, which is often associated with IgG2 deficiency. Genetic predisposition to develop IgA deficiency has been shown to be linked to at least one locus on 6p21. Some IgA-deficient patients are also prone to develop more severe immunodeficiency called common variable immunodeficiency, which is associated with decreased IgG and sometimes IgM production as well as partial T-cell defect. In a few cases, IgA deficiency may reveal a severe disease such as ataxia-telangiectasia. Selective IgA deficiency contraindicates immunoglobulin administration. Only the minority of IgA-deficient patients who develop severe or frequent infections in association with IgG2 deficiency or impaired antibody response are candidates for prophylactic intravenous immunoglobulin substitution. Immunoglobulin preparations containing particularly low amounts of IgA are required to avoid adverse effects related to anti-IgA alloantibodies.

Child↗

PubMed1995

HCV infection in patients with primary defects of immunoglobulin production.

We tested for infection with hepatitis C virus (HCV) in 58 patients affected by humoral immunodeficiencies: 43 common variable immunodeficiency (CVI), two hyper IgM syndrome (HIM), two IgG subclass deficiency, four ataxia-telangiectasia (AT), and seven X-linked agammaglobulinaemia (XLA). While the assessment of serum specific HCV antibodies in some of these patients was not informative because of the impairment in specific antibody production, the reverse transcriptase polymerase chain reaction (RT-PCR) assay used to detect serum HCV RNA was a useful method for diagnosing infection. We found that 38% of late onset hypogammaglobulinaemic patients (CVI, HIM or IgG subclass deficiency) had evidence of HCV infection. HCV infection was not detectable in patients with XLA or AT. The majority of our patients had persistent viraemia, and those who underwent liver biopsy showed histological findings of chronic hepatitis. Moreover, we could demonstrate in vitro that eight of 18 HCV-infected patients were actively producing anti-HCV antibodies, despite their impaired antibody production. The high rate of HCV infection in hypogammaglobulinaemic patients could be related to several nosocomial routes of transmission, including intravenous immune globulin administration. Despite the persistent viremia only two patients had cirrhosis and none had hepatocarcinoma.

Adolescent↗

PubMed1999

[Immunological investigation of hypogammaglobulinemia].

Immunoglobulin deficiency syndromes should be considered in patients with recurrent respiratory tract infections or in patients with infections caused by agents of low virulence. We present two patients with a clinical history of recurrent respiratory tract infections. Both patients had a humoral immunodeficiency characterised as common variable immunodeficiency (CVID). We give a brief survey of CVID with emphasis on the immunological investigation of hypogamma-globulinaemia. Analysis of serum, immunoglobulins should be performed in patients with recurrent infections Patients with humoral immuno-deficiency often have false negative serology for infectious agents despite obvious infections.

Adolescent↗

PubMed2005

Rheumatologic manifestations in patients with selected primary immunodeficiencies evaluated at the University Hospital.

OBJECTIVE: To characterize an IgA deficient and common variable immunodeficiency (CVI) group of patients in terms of the presence of rheumatologic manifestations. BACKGROUND: Although the molecular basis of some of the primary immunodeficiencies has been elucidated, it has not been possible to explain why in most cases these conditions are often associated with autoimmune manifestations, besides infections. The concomitant inability to fight infections adequately (immunodeficiency) and an inordinate reaction of the immune system to self components (autoimmunity) has been a perplexing situation. METHODS: The clinical and immunological profile of 71 patients fulfilling the diagnostic criteria of selective IgA deficiency (n=38) and common variable immunodeficiency (n=33) were evaluated for concurrent rheumatologic manifestations after a thorough medical history, physical examination and pertinent immunological parameters. RESULTS: The most common autoimmune conditions identified in patients with selective IgA deficiency were Crohn's disease and systemic lupus erythematosus (SLE); while immune thrombocytopenic purpura and Crohn's disease were the most common disorders associated to CVI. Anti-IgA antibodies were only found in 26.6% (95% C.I. 10.1-51.4) of patients with selective IgA deficiency but were present in all patients with that condition and SLE. Fifty per cent patients with CVI and ITP exhibited ANA positivity. CONCLUSIONS: The IgA-deficient group of patients in this study showed a higher prevalence of autoimmune conditions and greater positivity for ANA as compared to patients with CVI. In contrast to other reports with around 44% positivity of anti-IgA antibodies in selective IgA patients these were only present in 263% of patients with that disorder in this study. The high prevalence of antinuclear antibodies not associated with any clinical autoimmune condition in the IgA-deficient patients in this study will need to be further explored to ascertain why IgA-deficient patients may be at an increased risk of autoimmunity. Inflammatory bowel disease (Crohn's disease and ulcerative colitis) constituted the most common clinical autoimmune manifestations in both groups of patients studied. ITP was the commonest organ-specific autoimmune condition identified in the CVI group, as reported in previous publications. The limited number of patients studied does not allow a reliable estimate of the prevalence of SLE in the IgA-deficient population analyzed. The observed differences in frequency of positive antibodies and clinical autoimmune conditions in our patients cannot be taken as typical due to the limited number examined and the exclusion of pediatric cases in the IgA deficient group. A continued surveillance of these patients might help to establish more definite tendencies regarding rheumatologic manifestations in primary immunodeficiencies.

Adolescent↗

PubMed1999

[Hand-foot-mouth syndrome recurring during common variable deficiency].

BACKGROUND: Common variable immunodeficiency is characterized by hypogammaglobulinemia and recurrent bacterial infections. More uncommonly, these patients develop chronic enterovirus infectious meningoencephalitis. Recurrent enterovirus skin infection has not been reported to date in subjects with common variable immunodeficiency. CASE REPORT: A 26-year-old man had suffered repeated episodes of otorhinolaryngological and pulmonary infections since childhood. He experienced three episodes of vesicular cutaneous eruption involving the palms of both hands, the plantar aspect of the feet and the buccal mucosa. The patient was hospitalized in March 1995 at the third episode. Temperature was 38 degrees C. He had maculopapulous and vesicular eruptions on the palm of the hands and plantar aspect of the feet with irritation in some areas. Petichial lesions were seen on the palate. PCR demonstrated viral DNA and cell cultures of a lesion biopsy were positive for enterovirus. Gammaglobulinemia was 4 g/l with low B cell count. DISCUSSION: Viral infections are uncommon in patients with common variable immunodeficiency as cellular immunity remains normal. Severe viral infections caused by enteroviruses have however been reported, generally associating chronic, and generally fatal, meningoencephalitis. Our case would be the first case of a recurrent hand, foot and mouth disease in such patients.

Adult↗

PubMed1988

Immunoglobulin subclass deficiency.

IgG subclass deficiency was first noted in 1968. Subnormal levels of one or two, occasionally three IgG subclasses may be relatively common. It has not been determined, however, at what level below the normal range the IgG subclass deficiency is of clinical relevance. It remains important to clarify this point because certain subclass deficiencies may be without relevance of their own. Because patients with decreases of various IgG subclasses often present with a number of diseases, the low immunoglobulin levels may signify the presence of other abnormalities of more biologic significance. IgG subclass deficiency has been noted in about 25% of patients with well-defined food allergy and in patients with asthma, diabetes mellitus, Henoch-Schönlein's purpura, Bechterew's disease, intractable epilepsy of childhood, Friedreich's ataxia and autoimmune cytopenias. Most commonly they have increased frequency of infections especially in the respiratory tract, including sinusitis, otitis media and bronchopneumonia, but also osteomyelitis, meningitis, septicemia and various skin infections. Low levels of various subclasses have been noted in connection with other immunodeficiencies such as ataxia-telangiectasia. In common variable immunodeficiency there is an obvious imbalance in the IgG subclasses. Furthermore IgG subclass deficiency can be seen in relatives of patients with common variable immunodeficiency and in IgA deficiency. They also occur in relatives of patients with systemic lupus erythematosus, diabetes mellitus type 1 and C2 deficiency. In a few cases of subclass deficiency gene deletions have been shown. Subnormal levels of IgG subclasses make a remarkable change in sex distribution around puberty from 3/1 in boys and girls to the reverse sex ratio among adults.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1994

[Reconstitution of immunoglobulin production in patients with variable immunodeficiency syndrome (CVI) by the CD40 system and IL-10].

Common variable immunodeficiency (CVI) is widely believed to involve a primary B cell defect, however, there is increasing evidence of T cell dysfunction in these patients. To test the hypothesis that B cells of patients with CVI are not defective, we investigated whether immunoglobulin production can be induced by activation through the CD40 system. Our results show that 6 of 7 children with CVI produced IgG when B cells were activated through CD40 plus IL-10. In most patients, IgM and IgA production were also induced. However, we could demonstrate that failure of immunoglobulin production was not due to a defective CD40 ligand expression on T cells. Taken together, our data show that B cells of patients with CVI are functionally normal when activated through CD40 plus IL-10. IL-10 seems to be more effective than IL-2 in restoration of immunoglobulin production in such patients.

Adolescent↗