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 685 records · Page 38Linked to original sources

PubMed2000

Prospective analysis suggests susceptibility genes for deficiencies of IgA and several other immunoglobulins on the [HLA-B8, SC01, DR3] conserved extended haplotype.

The extended major histocompatibility complex (MHC) haplotype [HLA-B8, SC01, DR3] is increased in frequency among patients with immunoglobulin (Ig)A deficiency and common variable immunodeficiency. Because the genomic region from HLA-B to HLA-DR/DQ is virtually the same on all instances of the haplotype in the general population, we reasoned that all independent instances of [HLA-B8, SC01, DR3] carry MHC susceptibility genes for these disorders. To define immunoglobulin deficiencies determined by genes on this haplotype and their mode of expression and penetrance, serum immunoglobulin class and IgG subclass concentrations were determined prospectively in homozygotes and heterozygotes of this haplotype and in Caucasian controls. Prevalence of individual immunoglobulin deficiencies in persons with [HLA-B8, SC01, DR3] ranged from 13% to 37%, significantly higher than rates in non-carriers or general controls. We found significantly increased frequencies of IgA and IgG4 deficiency only in homozygotes (13.3% and 30%, respectively) compared with heterozygotes (1.7% and 3.4%) or non-carriers (1.6% each), suggesting recessive expression. In contrast, IgD and IgG3 deficiencies were significantly more common in both homozygotes (36.7% and 30%) and heterozygotes (20.3% and 17.5%) compared with controls (4.9% and 3.4%), suggesting dominant inheritance. These results indicate multiple distinct susceptibility genes, some recessive and others dominant, for deficiency of IgA, IgD, IgG3 or IgG4 (but not for IgE, IgG1, IgG2 or IgM) on [HLA-B8, SC01, DR3]. These observations may also help to explain the observed associations of [HLA-B8, SC01, DR3] with both IgA deficiency and common variable immunodeficiency and the common occurrence of IgG subclass deficiencies in some patients with IgA deficiency.

Common Variable Immunodeficiency↗

PubMed2003

SPECT scans for monitoring response to pleconaril therapy in chronic enteroviral meningoencephalitis.

Chronic enteroviral meningoencephalitis (CEMA) is a rare complication of immunodeficient individuals and may present as insidious intellectual deterioration. Diagnosis requires isolation or PCR identification of enterovirus from the CSF. Pleconaril, a novel anti-picornaviral compound is available on a compassionate release basis to treat patients with potentially life threatening enteroviral infection. Non-invasive neuroimaging is an important new technique for both the diagnosis of encephalitis and as an objective assessment of response to treatment. We report two immunodeficient patients, one with common variable immunodeficiency and one with HIV, with an insidious presentation of CEMA. In both patients, perfusion single photon emission tomography scans were effective in monitoring treatment, correlating with clinical and virological response to pleconaril.

Adolescent↗

PubMed2003

Substitution therapy in immunodeficient patients with anti-IgA antibodies or severe adverse reactions to previous immunoglobulin therapy.

BACKGROUND: Patients with common variable immunodeficiency often suffer from recurrent bacterial infections. Administration of immunoglobulins is a well-established treatment to reduce the frequency and severity of these infections. However, in patients with anti-IgA antibodies or side effects to previous immunoglobulin substitution therapy, administration of immunoglobulins may lead to anaphylactoid reactions. OBJECTIVE: To describe the feasibility of immunoglobulin substitution therapy in patients with anti-IgA antibodies or side effects to previous immunoglobulins. METHODS: A retrospective study was conducted in two university hospital outpatient clinics. Fourteen patients with common variable immunodeficiency were found to have circulating anti-IgA antibodies or have experienced severe reactions to previously administered blood products. RESULTS: In eight out of 15 patients side effects to immunoglobulins and/or blood transfusions had occurred previously. In four patients these reactions were due to anti-IgA antibodies. No side effects were observed when human immunoglobulin 16% was given by subcutaneous infusion. In all patients with anti-IgA antibodies, as well as in those without, subcutaneous immunoglobulins were well tolerated. In some patients antibodies disappeared and therapy could be changed into intravenous immunoglobulin administration. CONCLUSIONS: Patients with serious side effects to previous immunoglobulin therapy and/or blood transfusions can be safely treated with subcutaneous immunoglobulins and, if necessary, with intravenous immunoglobulins at a later point in time.

Adult↗

PubMed1997

Celiac sprue and immunodeficiency states: a 25-year review.

Immunoglobulin deficiency, especially deficiency of IgA, has been described in patients with celiac sprue (CS). Our study was performed in an area of high prevalence of CS to determine the prevalence of immunodeficiency states in patients with CS, to examine their clinical characteristics, response to treatment, and HLA phenotypes compared with a group of age- and sex-matched persons with CS but without immunoglobulin deficiency. Fourteen of 604 patients with CS were identified as being selectively deficient in IgA, whereas one had common variable immunodeficiency. At diagnosis, anemia was present in 8 of 14 IgA-deficient patients compared with 10 of 42 controls (p = 0.047), whereas abdominal pain was more common in controls with CS. Autoimmunity and recurrent infection were more prevalent in the IgA-deficient group. Response to gluten-free diet was similar in both groups in terms of histologic structure and recovery of intestinal brush-border enzyme activity. IgA-deficient participants with CS had no increased risk of associated malignancy or lymphoma. HLA phenotypes were similar in both groups. The prevalences of selective IgA deficiency and common variable immunodeficiency in this series of patients with CS are 2.31 in 100 and 0.16 in 100, respectively. Although this group is unique in character, close follow-up coupled with conscientious compliance with a gluten-free diet, remains the mainstay of treatment for these patients.

Adolescent↗

PubMed2004

Acute respiratory failure in a patient with sarcoidosis and immunodeficiency--an unusual presentation and a complicated course.

Pulmonary sarcoidosis is usually a chronic, insidious disease resulting from granuloma formation in the lung parenchyma. The epithelioid non-caseating granulomata of sarcoidosis are the result of a T-helper1-mediated immune reaction to an unknown self or foreign antigen. We describe the case of a patient with sarcoidosis and a coexistent common variable immunodeficiency who presented with rapidly progressive respiratory failure. This unusual presentation was followed by a complicated course with recurrent pneumoccocal infections, which could be explained by the coexistence of common variable immunodeficiency. Physicians should be alert to the possibility of sarcoidosis even when the clinical presentation is of acute respiratory distress syndrome (ARDS) since early treatment with steroids can be lifesaving. The detection of accompanying hypogammaglobulinemia is also crucial, as treatment with intravenous immunoglobulins (IVIG) together with steroids can improve the patient's outcome.

Acute Disease↗

PubMed1997

Transient CD80 expression defect in a patient with variable immunodeficiency and cyclic neutropenia.

CD80 expression on stimulated B cells of 9 common variable immunodeficiency (CVID) patients and 10 healthy control individuals was examined. Here we report on an exceptional CVID patient with recurrent episodes of cyclic neutropenia, skin vasculitis and recurrent infections associated with a transient, but reproducible CD80 expression defect on stimulated B cells. Concomitantly serum Ig levels were markedly reduced and B cell counts were low. Interestingly, after recovery from an episode of neutropenia and vasculitis we observed an improvement of the CD80 expression as well as an increase in the number of B cells and a recovery of IgM and IgG production in vivo and in vitro.

B-Lymphocytes↗

PubMed2004

Adverse reactions of prophylactic intravenous immunoglobulin infusions in Iranian patients with primary immunodeficiency.

BACKGROUND: Although long-term intravenous immunoglobulin infusion is an effective treatment for children with antibody deficiencies, it can be complicated by systemic adverse reactions. OBJECTIVE: To evaluate the adverse reactions of intravenous immunoglobulin therapy in patients with primary immunodeficiency. METHODS: Seventy-one immunodeficient patients receiving intravenous immunoglobulin were evaluated during a 7-year period (1995-2002) at Children's Medical Center in Tehran, Iran. Immunological diagnoses were as follows: common variable immunodeficiency (31 patients), X-linked agammaglobulinemia (25 patients), IgG subclass deficiency (5 patients), hyper-IgM syndrome (2 patients), and ataxia-telangiectasia (8 patients). RESULTS: One hundred fifty-two cases (12.35%) of adverse reactions occurred following 1,231 infusions in 35 patients. The most frequent immediate adverse reactions were mild reactions (131 infusions), including chills, fever, flushing, muscle pains, nausea, headache, and anxiety. Moderate reactions, such as vomiting, chest pain, and wheezing, occurred in 19 infusions. Two patients experienced severe adverse reactions. The highest proportion (23.06%) of reaction to injection was in patients with common variable immunodeficiency. CONCLUSIONS: Intravenous immunoglobulin is a well tolerated medical agent for patients with antibody deficiency. However, to prevent occurrence of immediate adverse reactions during infusion in these patients, physicians should perform a detailed history and proper physical examination and check the titer of anti-IgA.

Adolescent↗

PubMed2003

Hematopoietic stem cell gene therapy: progress toward therapeutic targets.

The concept of hematopoietic stem cell gene therapy is as exciting as that of stem cell transplantation itself. The past 20 years of research have led to improved techniques for transferring and expressing genes in hematopoietic stem cells and preclinical models now routinely indicate the ease with which new genes can be expressed in repopulating stem cells of multiple species. Both modified murine oncoretroviruses and lentiviruses transmit genes into the genome of hematopoietic stem cells and allow expression in the host following transplantation. Using oncoretroviruses, therapeutic genes for severe combined immunodeficiency, common variable gamma chain immunodeficiency, chronic granulomatous disease, Hurler's and Gaucher's Disease have all been used clinically with only modest success except for the patients with immunodeficiency in whom a partial T-cell chimerism has been dramatic. Since stem cell selection in vivo appears important to the therapeutic success of gene transfer, drug resistance selection, most recently using the MGMT gene, has been developed and appears to be safe. Future trials combining a drug resistance and therapeutic gene are planned, as are trials using safety-modified lentiviruses. The therapeutic potential of hematopoietic stem cell gene therapy, particularly given recent advances in stem cell plasticity, remains an exceptionally exciting area of clinical research.

Genetic Therapy↗

PubMed2005

[29-year-old female patient with pneumonia and enlarged abdominal lymph nodes].

Common variable immunodeficiency (CVID) is the most common clinically manifested primary immunodeficiency disease. A 29-year-old female patient presented with pneumonia and enlarged thoracal and abdominal lymph nodes. Frequently recurring infections, especially in the respiratory tract were observed in the patient's history. A hypogammaglobulinaemia could be detected. By exclusion of other disorders and a complete analysis of the immune status a CVID Ib/B was diagnosed. Regular ambulatory treatment with immune globulin substitution reduced the incidence and severity of infections.

Abdomen↗

PubMed2006

Advances in basic and clinical immunology.

This review comments on basic and clinical immunology articles that were published in 2005, with a focus on those that appeared in the Journal of Allergy and Clinical Immunology. In the area of basic immunology, mechanisms of the innate immune system and its interaction with the adaptive immune system were described, with special consideration to applications in biodefense strategies. T regulatory cells were further characterized in their role for the control of allergic, autoimmune, and neoplastic disorders. The function of the thymus Hassall's corpuscles was reported to be the generation of T regulatory cells. Flavonoid molecules obtained from medicinal herbs, including astilbin and epigallocatechin gallate, were discovered to have immunomodulatory properties. Advances in clinical immunology resulted from efforts to develop a newborn screening test for severe combined immunodeficiency and the elucidation of the crystal structure of the IL-2 receptor gamma chain. Mutations in the membrane receptor transmembrane activator and calcium modulator and cyclophilin ligand interactor were found in patients with common variable immunodeficiency. New therapeutic options are described, such as the use of infliximab for granulomas and GM-CSF for chronic ulcers in patients with common variable immunodeficiency. The importance of mucosal immunity in acute HIV infection is cited, as is the role of CD8+ T-cell activation in HIV disease progression in children.

Allergy and Immunology↗

PubMed2006

[Adult-onset primary hypogammaglobulinemia].

Hypogammaglobulinemia during adulthood can lead to recurrent infectious diseases, particularly pneumonia, otitis, and sinusitis, mainly due to Streptococcus pneumoniae and Haemophilus influenzae. Physicians must discriminate between primary and secondary hypogammaglobulinemia to provide appropriate treatment. Common variable immunodeficiency (CVID) is the most common cause of primary hypogammaglobulinemia diagnosed in adulthood. Clinical features include various combinations of infectious diseases, autoimmune diseases, lymphoproliferative disorders, and gastrointestinal diseases. Mutations in genes responsible for primary hypogammaglobulinemia in children are occasionally described in adults with CVID. ICOS and TACI deficiencies have recently been reported in a few CVID patients, although most cases have no proven genetic defects. The DefI cohort is recruiting adults with CVID throughout France. It will make it possible to describe the clinical, immunological, and genetic features of French patients with hypogammaglobulinemia and will help us to understand this immune deficiency better.

Adult↗

PubMed1979

Immunodeficiency, malabsorption and secretory diarrhea. A new syndrome.

Described here is a patient with severe watery diarrhea associated with common variable immunodeficiency. Malabsorption for fat, bile acids, vitamin B12 and xylose was demonstrated, but the patient failed to respond to all the usual therapeutic maneuvers. The diarrhea responded only to high dose steroid therapy. Intestinal perfusion studies showed a hitherto undescribed, presumably acquired, glucose-stimulated water, sodium and chloride secretion in the jejunum and ileum, whereas normal fluid and electrolyte transport occurred from bicarbonate and mannitol solutions. Glucose absorption itself was normal and no hormonal, morphologic or biochemical defect was demonstrated to account for the phenomenon. The patient was also interesting when compared with other patients with common variable immunodeficiency in having normal plasma cells in the intestinal mucosa and an extensive family involvement.

Adult↗

PubMed1996

Hepatitis C virus density heterogeneity and viral titre in acute and chronic infection: a comparison of immunodeficient and immunocompetent patients.

BACKGROUND: Heterogeneities in the buoyant density of hepatitis C virus RNA have been reported in different groups of patients, and have been attributed to differential binding of viral particles to beta-lipoproteins and IgG, and the presence of hepatitis C virus nucleocapsids in circulation. It may be that hepatitis C virus density heterogeneity correlates with the severity of liver disease, hepatitis C virus RNA titre, and the immunocompetence of the patient. METHODS AND RESULTS: We have analysed five immunodeficient patients (one with hypogammaglobulinaemia and selective IgA deficiency, one with X-linked agammaglobulinaemia, three with common variable immunodeficiency) who have been acutely infected with the same batch of intravenous immunoglobulin contaminated with hepatitis C virus (genotype 1a). The course of hepatitis C virus infection in these patients was compared to one immunocompetent patient who presented with acute hepatitis C virus and progressed to chronic disease, and seven immunocompetent patients with chronic hepatitis C. Serum samples were analysed by differential flotation ultracentrifugation in NaCl solution (density 1.063 g/ml). The high and low density fractions were tested for the presence of RNA by RT-PCR. Serum samples were also quantified for hepatitis C virus RNA (Amplicor HCV Monitor kit, Roche Diagnostic Systems). Three quarters of the acutely infected patients analysed presented with low density hepatitis C virus. Low density hepatitis C virus was absent in most chronic infections but persisted in two patients with common variable immunodeficiency. High density hepatitis C virus was detected in the chronic phase in all acutely infected patients in whom the disease persisted, and was present in all samples from PCR-positive patients with chronic infection. Immunodeficient patients had significantly higher hepatitis C virus RNA titres on presentation than immunocompetent patients, but there was no correlation between titre and clinical course of infection. CONCLUSIONS: Heterogeneities in the buoyant density of hepatitis C virus RNA have been identified in the patient groups studied. Low density hepatitis C virus is detected more often in acute infection and high density hepatitis C virus is detected more often in chronic infection. Despite acute infection via the same route of infection with the same hepatitis C virus strain, the five immunodeficient patients studied all followed a different clinical course.

Acute Disease↗

PubMed1983

The proportion of TA, TG, and TM cells in various immunodeficiency and autoimmune disorders.

Patients with various immunodeficiency and autoimmune disorders were examined for the proportions of T cells bearing Fc-IgA, Fc-IgG, and Fc-IgM receptors. These disorders included common variable immunodeficiency, systemic lupus erythematosus, ataxia-telangiectasia, selective IgA deficiency, and the Wiskott-Aldrich syndrome. Abnormal proportions (higher or lower than an interval containing 95% of our normal values) of Fc-IgA receptor-bearing T cells (TA) were found in common variable immunodeficiency, systemic lupus erythematous, ataxia-telangiectasia, and selective IgA deficiency. However, the proportion of T cells bearing Fc receptors did not correlate with their functional activity in in vitro immunoglobulin production assays.

Ataxia Telangiectasia↗

PubMed1985

Surface markers, 5'-nucleotidase activity, and in vitro functions of lymphocytes from patients with primary humoral immunodeficiency.

Immunologic surface markers, 5'-nucleotidase activity, and in vitro cell functions were determined on peripheral blood mononuclear cells from 20 patients with primary humoral immunodeficiencies. Imbalances of T-cell subsets were a frequent finding and often associated with a deficiency of helper T lymphocytes, predominantly in common variable immunodeficiency. The magnitude of the blastogenic response to mitogens was subnormal in the majority of the samples and showed no correlations to the proportions of helper, suppressor T cells or monocytes in the cultures. Moderate to marked suppression of the pokeweed mitogen-driven allogenic B-cell maturation was mostly mediated by T lymphocytes but modified by monocytes in some patients. In identical twins, T lymphocytes selectively suppressed IgA production. Both in sex-linked agammaglobulinemia and common variable immunodeficiency the activity of 5'-nucleotidase was significantly lower than in controls. This deficiency was mediated by T lymphocytes and showed no correlations to imbalances of T-cell subpopulations or to alterations of lymphocyte functions.

5'-Nucleotidase↗

PubMed2006

Expansion of functionally immature transitional B cells is associated with human-immunodeficient states characterized by impaired humoral immunity.

X-linked lymphoproliferative disease (XLP) is a severe immunodeficiency associated with a marked reduction in circulating memory B cells. Our investigation of the B cell compartment of XLP patients revealed an increase in the frequency of a population of B cells distinct from those previously defined. This population displayed increased expression of CD10, CD24, and CD38, indicating that it could consist of circulating immature/transitional B cells. Supporting this possibility, CD10+CD24highCD38high B cells displayed other immature characteristics, including unmutated Ig V genes and elevated levels of surface IgM; they also lacked expression of Bcl-2 and a panel of activation molecules. The capacity of CD24highCD38high B cells to proliferate, secrete Ig, and migrate in vitro was greatly reduced compared with mature B cell populations. Moreover, CD24highCD38high B cells were increased in the peripheral blood of neonates, patients with common variable immunodeficiency, and patients recovering from hemopoietic stem cell transplant. Thus, an expansion of functionally immature B cells may contribute to the humoral immunodeficient state that is characteristic of neonates, as well as patients with XLP or common variable immunodeficiency, and those recovering from a stem cell transplant. Further investigation of transitional B cells will improve our understanding of human B cell development and how alterations to this process may precipitate immunodeficiency or autoimmunity.

ADP-ribosyl Cyclase 1↗

PubMed1979

Progressive hypogammaglobulinaemia in a child born to a mother with Hodgkin's disease.

A young woman developed Hodgkin's disease (nodular sclerosis) in pregnancy and gave birth to a boy who developed common variable immunodeficiency. Initially there was normal IgG with low IgA and IgM, and antibody deficiency. IgG levels fell progressively over 4 years. Cellular immunity was normal. We suggest that this is a further family with immune deficiency presenting with common variable immunodeficiency and lymphoid malignancy.

Adult↗

PubMed1988

Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children.

This first report of a Swiss registry includes 313 patients with primary immunodeficiency syndromes (PIDS) who were observed between January 1975 and January 1985. Diagnosis of specific PIDS was made according to WHO criteria. The most frequent disorders were IgA deficiency (33%) and common variable immunodeficiency (22%), followed by selective deficiency of other immunoglobulin isotypes (9%), severe combined immunodeficiency (9%), infantile sex-linked agammaglobulinemia (7%), and Wiskott-Aldrich syndrome (6%). Frequencies of other types of PIDS varied between 0.3 and 4%. Half of the patients were in the pediatric age group. Male patients predominated (63%). In addition to respiratory and urogenital tract infections, autoimmune disorders were observed in 14 patients with IgA deficiency or common variable immunodeficiency. IgA deficiency was, furthermore, associated with atopic and neurological disorders. A comparison with other national registries revealed some differences: the frequency of severe combined immunodeficiency was high (incidence, 24.3 cases per 10(6) live births), and that of ataxia teleangiectasia was particularly low (1.4 per 10(6) live births) in Switzerland. Frequencies of the three major PIDS groups of (i) predominantly antibody defects, (ii) predominantly cell-mediated defects, and (iii) PIDS associated with other major defects agreed with those reported in the other European studies.

Adolescent↗