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Results for “Common Variable Immunodeficiency”

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PubMed1999

Nosocomial HIV-transmission in an outpatient clinic detected by epidemiological and phylogenetic analyses.

OBJECTIVE: To determine if a case of HIV-infection in a patient (GP) with common variable immunodeficiency, and with no known risk factors for HIV-infection, could be due to horizontal nosocomial transmission. METHODS: For determination of time of transmission stored serum-samples from GP were analysed for HIV RNA content. Patient records were used to identify patients, who had received intravenous therapy on the same day as GP. Samples from GP and these possible source patients were identified and phylogenetic analyses of the env, gag and RT-encoding region of pol were performed. Furthermore, routines in conjunction with intravenous therapy were examined. RESULTS: We identified a patient (FDL) harbouring virus almost indistinguishable from the virus isolated from GP. The pairwise nucleotide distance between the C2-V3-C3 region of the env and gag sequences from the two patients were 1.9 and 0.9% respectively. In addition, GP harboured HIV RNA with a foscarnet resistance mutation further lending support to virus from the foscarnet-treated FDL being the source of the infection. Interestingly, GP experienced increases in immunoglobulin production after contracting the HIV-infection, and decreases after antiretroviral-induced viral suppression. A clinical procedure which, under stressful conditions, could lead to breaches in infection control measures was identified. The source of the infection was most likely a contaminated multidose vial. CONCLUSION: Through epidemiological and phylogenetic analyses a case of horizontal nosocomial HIV-transmission was disclosed. Identification of multidose vials as possible vehicles for horizontal nosocomial transmission recently led to the recommendation of restriction of the use of multidose vials, a recommendation supported by the present study. The study underlies the importance of a constant survey of infection control precautions.

Ambulatory Care Facilities↗

PubMed1996

Encephalomyelitis in primary hypogammaglobulinaemia.

The neurological features of 13 patients with primary hypogammaglobulinaemia are described. Seven patients had X-linked agammaglobulinaemia (XLA) and six had common variable immunodeficiency (CVID). Three clinical pictures emerged: (i) a progressive myelopathy (one case); (ii) a myelopathy progressing to an encephalopathy (four cases); (iii) a pure encephalopathy (eight cases). In four patients the encephalopathy was temporarily reversible; the relationship of this to immunoglobulin therapy is unclear. Additional features occurred in some patients. Three had retinopathy interpreted as retinitis pigmentosa, in one of whom the retinopathy resolved. Two patients had a sensori-neural hearing loss and three had features of dermatomyositis; a variable pleocytosis was found in the CSF of nine patients. Imaging revealed atrophic changes in the cerebral hemispheres in eight cases. Ten patients have died, 1-11 years after the onset of the CNS manifestations, and in four autopsies were obtained. Two patients had encephalopathy, one with XLA had evidence of end-stage encephalitis and the other with CVID had a multi-focal leucoencephalopathy. The other two with XLA had leptomeningitis without evidence of encephalitis. Enteroviral infection is probably an important cause of neurological disease in these patients as CSF from seven patients was either positive by polymerase chain reaction (PCR) or by culture for enteroviruses. Other possible mechanisms are discussed.

Adolescent↗

PubMedDate not supplied

HLA haplotype A03-B07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload.

Before the discovery of HFE, reports suggested that hemochromatosis patients with the ancestral haplotype (or some element thereof) have more severe iron overload than those without the haplotype. We performed univariate and multivariate analyses of the relationships of human leukocyte antigen (HLA)-A*03 and HLA haplotype A*03-B*07 to iron measures (serum iron concentration, transferrin saturation, and serum ferritin concentration at diagnosis and units of phlebotomy to achieve iron depletion) in hemochromatosis probands homozygous for HFE C282Y diagnosed in medical care. Iron overload was defined by demonstration of hepatic iron index of > or =1.9 or removal of > or =2.0 g Fe by therapeutic phlebotomy. We tabulated the phenotype frequencies of HLA-A*03 and the frequencies of common HLA haplotypes A*01-B*08, A*02-B*44, A*03-B*07, and A*03-B*14 in three groups of white adults: (1) 141 hemochromatosis probands with C282Y homozygosity; (2) 195 index cases with IgG subclass deficiency (IgGSD) or common variable immunodeficiency (CVID), disorders typically linked to Ch6p, and (3) 750 control subjects. Among probands, 86 men and 42 women had iron overload. Frequencies of HLA-A and -B alleles in probands did not depart significantly from Hardy-Weinberg equilibrium. The phenotype frequency of A*03 did not differ significantly between men and women in the each of the respective three groups. The frequency of haplotype A*03-B*07 was greater in men than women with hemochromatosis (0.3081 vs. 0.1455; P = 0.0019). The frequency of A*03-B*014 was significantly greater in women than men with hemochromatosis (0.1182 vs. 0.0407, respectively; P = 0.0134). Mean values of most iron measures were not affected by numbers of copies of A*03 or by presence of A*03-B*07 in either men or women in univariate analysis. ANOVA models of sex, age at diagnosis, and all HLA alleles and haplotypes in probands were used to determine effects of these variables on iron measures. ANOVA models revealed that (1) there were no significant predictors for serum iron concentration; (2) B*14 is associated with higher transferrin saturation in women and lower transferrin saturation in men; (3) A*01-B*08 is associated with a trend of higher serum ferritin levels; and (4) A*03-B*14 is associated with exaggeration of the age-associated upward trend in units of phlebotomy to achieve iron depletion. In hemochromatosis probands with HFE C282Y homozygosity, we conclude that (1) disparate frequencies of HLA haplotypes A*03-B*07 and A*03-B*14 occur in men and women and (2) HLA-A*03 and HLA-A*03-B*07 are not independent variables associated with iron overload severity.

Adolescent↗

PubMed1996

Hepatitis C virus infection in Italian patients with hypogammaglobulinemia.

We investigated the presence of hepatitis C virus (HCV) infection in 58 patients with humoral immunodeficiencies. Forty-three of these patients had common variable immunodeficiency (CVI), 2 had sporadic hyperimmunoglobulin M (HIM) syndrome, 2 had immunoglobulin G subclass deficiency, 4 had ataxia-telangiectasia (AT), and 7 had X-linked agammaglobulinemia (XLA). Patients with late-onset hypogammaglobulinemia (those with CVI, HIM, or immunoglobulin G subclass deficiency) had a 38.2% prevalence of HCV infection. In patients with XLA or AT, HCV infection was not detectable. Most of the HCV-infected patients had persistent viremia, with histologic findings of chronic hepatitis. Although patients positive for HCV ribonucleic acid (RNA) had received several lots of immunoglobulin, we were unable to detect any correlation between the time that alanine aminotransferase levels increased and the time that intravenous immunoglobulin therapy was given, except in one patient with CVI. Moreover, we found no differences in the number of blood transfusions, surgical procedures, or administrations of intravenous or intramuscular immunoglobulin between HCV RNA-positive and HCV RNA-negative groups. We concluded that: (1) the incidence of HCV infection in patients with hypogammaglobulinemia is much higher than that reported in the Italian general population; (2) although patients with hypogammaglobulinemia have persistent viremia, they do not show an aggressive course of HCV disease, nor does hepatocarcinoma develop; and (3) intravenous immunoglobulins are only one of several possible causes of HCV transmission in patients with humoral immunodeficiencies.

Adult↗

PubMed1987

A novel arachidonic acid metabolite with stimulatory effect on PHA-induced mitogenesis of lymphocytes.

The isolation of a novel arachidonic acid (Aa) metabolite from the supernatant of unstimulated human cord blood mononuclear leucocytes is reported. The metabolite, arbitrarily named 'compound 4' is neither a known lipoxygenase nor a cyclooxygenase product. 'Compound 4' was added to PHA-stimulated peripheral blood mononuclear leucocytes (PBML) from healthy blood donors, from mothers at term and from patients with immunodeficiency. 'Compound 4' induced an increase in the 3H-TdR incorporation by the maternal PBML and by the PBML from patients with various immunodeficiencies such as Wiskott-Aldrich syndrome and common variable immunodeficiency, whereas it had no effect on the proliferation of PBML from blood donors.

Arachidonic Acid↗

PubMed2004

Leukocyte circulation: one-way or round-trip? Lessons from primary immunodeficiency patients.

The identification of chemokines has profoundly changed the way we interpret the immune response, elucidating the mechanism by which inflammatory cells are recruited to the site of infection by local secretion of chemoattractants such as CXC chemokine ligand 8 (CXCL8)/interleukin-8, chemokine ligand 2 (CCL2)/monocyte chemoattractant protein 1. This novel view of the immune response has been remodeled further following observations that lymphoid tissue development derives from the coordinated secretion of homeostatic chemokines such as CCL19, CCL21, and CXCL13, which mediate recruitment and clustering of the cells involved in lymphoid organogenesis. The study of primary immunodeficiencies has demonstrated that the number of circulating leukocytes is dependent on migration amongst bone marrow, blood circulation, and inflamed tissues. Defects of leukocyte adhesion and chemotaxis as a result of mutations of beta2-integrins lead to abnormal leukocytosis and susceptibility to skin infections, as observed in leukocyte adhesion deficiency. Conversely, neutropenia in children with myelokathexis is a result of leukocyte retention in the bone marrow because of the mutations of CXC chemokine receptor 4, which affect the capacity of cells to recirculate between blood and bone marrow. Moreover, the identification of the genetic basis of primary immunodeficiencies has shown that many primary immunodeficiencies such as Wiskott-Aldrich syndrome and common variable immunodeficiencies are characterized by altered migration of leukocytes and/or disregulation of cellular response to chemokines. This paper will be focused on the interpretation of primary immunodeficiencies as defects in leukocyte circulation between blood and primary and secondary organs.

Blood Circulation↗

PubMed1982

Persistent strongyloidiasis in an immunodeficient patient.

A 56-year-old woman with acquired, common variable immunodeficiency was found to have persistent gastrointestinal as well as pulmonary infection with Strongyloides stercoralis. Repeated courses of treatment with thiabendazole led to marked reduction or loss of Strongyloides stercoralis larvae, but cessation of treatment always led to recurrence of Strongyloides infection. Several small bowel biopsies showed normal villous architecture and little inflammatory response to presence of larvae. Interestingly, no definite symptomatology could be attributed to the Strongyloides infection. It was postulated that the lack of signs and symptoms of strongyloidiasis, as well as poor response to treatment, was related to the immunodeficiency state. With low-dose, long-term interrupted courses of thiabendazole treatment, the Strongyloides infection finally seemed to be cured.

Feces↗

PubMed1989

[Unusual immunoglobulin gene rearrangements in patients with immunodeficiency].

In a 64-year-old patient with typical common variable immunodeficiency (CVID) DNA prepared from peripheral blood lymphocytes (PBL) showed a prominent immunoglobulin heavy chain (IgH) gene rearrangement; the immunoglobulin light chain (IgL) genes were found to be in the germline configuration. In contrast, a 13-year-old girl with a hitherto unidentified immunodeficiency showed polyclonal IgH gene rearrangements and a dominant IgL gene rearrangement. In both cases neither monoclonal B-lymphocytes nor monoclonal immunoglobulins were detectable. Our explanation for this unusual observation is that V-gene use in a given B-cell is not entirely random. This may be the consequence of a maturation arrest of B-cells.

Adolescent↗

PubMed1991

Human immunodeficiency resulting from a maturational arrest of germinal center B cells.

Common variable immunodeficiency (CVI) is an acquired human disorder involving a striking and heterogeneous maturational defect of B lymphocytes. In this study, we used a recently developed VH gene utilization assay to analyze the abundance of developmentally restricted and unrestricted V genes in blood B cells from nine CVI patients. Unrestricted clones (bearing rearranged VH5, VH4, or VH6 genes) were present in normal abundance in this group of CVI patients. However, clones bearing VH3L, a subgroup of the VH3 family normally abundant in blood B cells but absent in B cells at the germinal center stage, were deficient in seven of nine CVI patients. Based on these findings and a reconsideration of previously reported B cell features in CVI, we propose that the disorder represents in most cases a maturational arrest of B cells at the germinal center stage.

Antigens, Differentiation, B-Lymphocyte↗

PubMedDate not supplied

Autoimmune manifestations in patients with primary immunodeficiency.

Primary immunodeficiency comprises a heterogeneous group of disorders. Autoimmune and/or rheumatic manifestations are not uncommon in these patients. It may be the first and/or sole sign before the underlying disease is established. This study focuses on the children of primary immunodeficiency with autoimmune disease to survey the clinical and laboratory finding retrospectively. From January 1985 to June 1998, ten patients (M:F = 9:1) of primary immunodeficiency with at least one well defined autoimmune disease were identified. The underlying immunodeficiency included three with Bruton's disease, three with common variable immunodeficiency, one with hyper-IgM, one with primary CD4 T-cell deficiency and two with Wiskott-Aldrich syndrome. The autoimmune manifestations include arthritis in six, ulcerative colitis in one, and autoimmune hemolytic anemia in three children. The major treatment was steroid and non-steroid anti-inflammatory drug. Infection could be controlled with antibiotics and intravenous immunoglobulin in all save one. The morbidity among these patients included bronchiectasis with pulmonary hypertension in three, joint stiffness, short stature, and delayed puberty in two. In conclusion, autoimmune diseases are frequently seen in patients with primary immunodeficiency. It could be the first and/or sole sign of disease. The possibility of immunodeficiency should be kept in mind when evaluating patients with autoimmune diseases.

Autoimmune Diseases↗

PubMed1994

Lymphoproliferative disorders and other tumors complicating immunodeficiencies.

Lymphoproliferative disorders and selected carcinomas which occur as complications of primary or secondary immunodeficiencies are frequently fatal. The incidence rates of these cancers vary from 1% to as high as 25% among specific groups of persons with primary (genetically-determined) immunodeficiencies as well as acquired immunodeficiencies, including immunosuppressed organ transplant recipients and individuals infected with HIV. Lymphoproliferative disorders including Epstein Barr virus (EBV) associated B cell lymphoproliferative disease (BLPD) and Hodgkin's disease represent the predominant category of tumors in both primary and acquired immunodeficiencies. EBV is an important cofactor common to many, but not all, B cell "lymphomas." Immunodeficient individuals who are at risk for developing EBV BLPD may demonstrate both inadequate immune responses to the virus as well as generalized immunoregulatory dysfunction reflected as imbalances in cytokine production favoring the proliferation of transformed B lymphocytes. Historically, the success of treatment of lymphoproliferative disorders in immunodeficiencies with conventional multi agent chemotherapies and/or radiation has been limited by unfavorable tumor response rates and high morbidity and mortality related to intercurrent opportunistic infections. With improvements in supportive care and the use of recombinant biologic response modifiers such as alpha interferon and/or other immunotherapies to treat EBV BLPD, survival of immunodeficient hosts following tumor diagnosis may improve. In addition to lymphoproliferative disorders, patients with congenital immunodeficiencies associated with IgA deficiency (including ataxia telangiectasia and Common Variable Immunodeficiency) are at increased risk for gastrointestinal carcinomas. Early detection and surgical excision of such tumors can result in prolonged survival in such patients.

Humans↗

PubMed1994

Immunodeficiency due to a faulty interaction between T cells and B cells.

The identification of the ligand for CD40, gp39, which is expressed on the membrane of activated CD4+ T-helper cells, has sparked intense investigation into the roles of this molecule in physiological B-cell activation. Recently, it has become clear that some human immunodeficiencies, such as X-linked hyper IgM syndrome and common variable immunodeficiency are linked to mutations in the gp39 gene or are a result of defective expression of gp39, leading to suboptimal, or a lack of, B-cell activation by T-helper cells.

Animals↗

PubMedDate not supplied

T- and B-lymphocytes in immunological disorders.

The lymphocytes from the patients with primary immunodeficiency diseases and those under immunosuppressive conditions such as viral infection or administration of antimetabolites were studied by various parameters of T- and B-lymphocytes. T-lymphocyte specific antigen, spontaneous rosette formation with sheep erythrocytes, phytohaemagglutinin response of the lymphocytes and delayed hypersensivity skin reaction were used to assess T-lymphocytes, while complement receptor, surface immunoglobulin, serum immunoglobulin levels and antibody response to antigens were estimated as parameters of B-lymphocytes. 9 of infantile agammaglobulinemia, 8 severe combined immunodeficiency, 5 ataxia telangiectasia, d Di-George syndrome, 11 common variable immunodeficiency, 3 isolated IgA deficiency and 4 cases thymectomized more than 10 years previously were studied and discussed for the results. The peripheral blood lymphocytes, especially T-lymphocytes were reduced in the acute stage of measles infection, while they were increased in infectious mononucleosis caused by EB (Epstein-Barr) virus. Atypical lymphocytes observed in the later disease seemed to originate from mainly T-lymphocytes. Cyclophosphamide had suppressive effect selectively on B-lymphocytes.

Adult↗

PubMed1989

Predominant immunoglobulin gene rearrangements in two patients with immunodeficiency: restricted use of V gene segments and DNA hypermethylation.

The majority of common variable immunodeficiencies (CVID) is caused by intrinsic B cell defects which impede distinct stages of B cell differentiation. B cell differentiation is accompanied by the rearrangement of immunoglobulin (Ig) genes. The first step in the rearrangement process is the assembly of IgH genes, and subsequently, IgL genes are rearranged. During B cell maturation, Ig genes are demethylated in a stepwise, locus-specific manner. Here, we examined the Ig gene rearrangements of four patients with classical CVID and of one child suffering from an unusual immunodeficiency associated with CD5+ B cell lymphocytosis. In one of the four adult patients with CVID, we observed a predominant type of VHDJH-gene rearrangement. In the child, different polyclonal VHDJH-gene rearrangements were found together with a predominant type of kappa light chain gene rearrangement. The rearranged kappa chain genes were methylated (as in the pre-B cell stage). These findings together with the cell phenotype analysis and the clinical course of the disease in the child suggests that in some patients with primary immunodeficiency a maturation arrest may occur in B cells leading to a predominant Ig V gene rearrangement.

Adolescent↗

PubMed2006

Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry.

Primary immunodeficiency disorders (PID) are a heterogeneous group of diseases, characterized by an increased susceptibility to infections. A total of 930 patients (573 males and 357 females) are registered in Iranian PID Registry (IPIDR) during three decades. Predominantly antibody deficiencies were the most common (38.4%), followed by congenital defects of phagocyte number and/or function (28.3%), other well-defined immunodeficiency syndromes (17.7%), combined T- and B-cell immunodeficiencies (11.0%), complement deficiencies (2.4%), and diseases of immune dysregulation (2.3%). Common variable immunodeficiency was the most frequent disorder (20.8%), followed by chronic granulomatous disease, ataxia-telangiectasia, btk deficiency, selective IgA deficiency, and T-B-severe combined immunodeficiency. The frequency of other PID disorders was less than 50 in number (<5%). There is an increasing trend in recognition of more PID in the recent years. Construction of such registry is not only important for its epidemiological aspect but also for its role in increasing the physician's knowledge about such disorders.

Adolescent↗

PubMed2005

Basic and clinical immunology.

The authors selected articles published in the literature from January 2004 through December 2004 that were relevant to the areas of basic and clinical immunology. Several articles explored the development of TH1 or TH2 response and the role of the monocyte-T cell interaction. Others were articles describing the action of drugs commonly used in asthma to inhibit cytokine responses and the anti-inflammatory role of nonimmune pulmonary cells present in the lung. Several reports show how dendritic cells are being developed as vehicles for DNA vaccines aimed at stimulating cellular responses, an advance of great importance for HIV researchers working on vaccines, who are concerned about the different ways HIV evades the immune response. Other publications described Toll-like receptors in diverse cells, including mast cells and CD4+ T cells, for the recognition of viruses and bacteria. In the area of clinical immunology, an updated classification for primary immunodeficiencies with more than 100 identified genes responsible for these diseases and the report on the second clinical trial of gene therapy for X-linked severe combined immunodeficiency syndrome were published. Significant advances included the clinical prognosis in common variable immunodeficiency for patients presenting with lung pathology, the safety of live vaccines in partial DiGeorge syndrome, the report of patients with complete DiGeorge syndrome with the presence of peripheral blood T cells, the clinical spectrum of patients with NF-kappaB essential modifier (NEMO) gene deficiency, the publication of a consensus algorithm for the management of hereditary angioedema, and the report of immune restoration syndrome in pediatric HIV infection.

Animals↗

PubMed1986

IgG subclass levels in the serum of patients with primary immunodeficiency.

Serum IgG subclass levels are reported on 70 patients with known primary immunodeficiency syndromes. Analysis of the data on the 28 patients with common variable immunodeficiency suggest that the deficit in subclasses is not generally proportionate. Some subclasses appear to be more strongly affected than others. The pattern suggests a hierarchical involvement with the order: IgG4 greater than IgG2 greater than IgG1 greater than IgG3. There appears to be a closer relationship between IgG1 and IgG3 levels than between IgG2 and IgG3 or IgG1 and IgG2 levels. The data are consistent with the hypothesis that there is a sequential increasing impediment of the programmed cascade for downstream heavy chain constant region gene rearrangements.

Agammaglobulinemia↗

PubMed1997

Lymphoproliferative disorders associated with congenital immunodeficiencies.

This report reviews the clinicopathologic, immunologic, and molecular biological features of the congenital immunodeficiencies and their associated lymphoproliferative disorders (LPD) including cases presented at the Third Slide Workshop of the Society of Hematopathology, held in Duarte California, in October 1995. The congenital immunodeficiencies most commonly associated with LPD include Wiskott-Aldrich syndrome (WAS), common variable immunodeficiency (CVID), ataxia telangiectasia (AT), severe combined immunodeficiency (SCID), X-linked lymphoproliferative disorder (XLP), and hyper-IgM syndrome. Each form of immunodeficiency disorder is associated with its own risk factors, which affect the pattern of LPD encountered. AT is characterized by a defect in DNA repair. The lymphomas and leukemias in this syndrome resemble those seen in sporadic LPD, but tend to occur at an earlier age. Epstein-Barr virus (EBV) plays an important role in the LPD associated with many immunodeficiency disorders including WAS, CVID, SCID, and XLP. One should use a combination of clinical, histopathologic and molecular data in the evaluation of lymphoproliferative lesions in this group of patients. Immunophenotypic and molecular evidence of clonality does not necessarily imply an aggressive clinical course, an exemplified by some LPD in WAS, which may show evidence of monoclonality in serum and lymph nodes, and yet still behave in a benign or indolent fashion.

Humans↗