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Results for “Common Variable Immunodeficiency”

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PubMed1983

Ecto-5'-nucleotidase activity in human T cell subsets. Decreased numbers of ecto-5'-nucleotidase positive cells from both OKT4+ and OKT8+ cells in patients with hypogammaglobulinemia.

T lymphocytes from control subjects were separated into subsets using monoclonal antibodies of the OKT series and complement lysis and analyzed for ecto-5'-nucleotidase activity both by quantitative radiochemical assay and a histochemical stain. T cells from 15 control subjects contained 54+/-4% OKT4(+) (helper/inducer) cells and 32+/-3% OKT8(+) (cytotoxic/suppressor) cells. Total T cell ecto-5'-nucleotidase activity was 10.9+/-2.1 nmol/h per 10(6) cells with 25+/-7% positive by histochemical stain. Ecto-5'-nucleotidase activity in OKT4-enriched populations was 5.43+/-1.8 nmol/h per 10(6) cells with 14+/-2% positive by histochemical stain; that in OKT8-enriched populations was 17.1+/-5.9 nmol/h per 10(6) cells with 35+/-8% positive by histochemical stain. Two of four patients with congenital agammaglobulinemia and four of seven patients with common variable immunodeficiency had decreased proportions of OKT4(+) T cells with corresponding increases in the proportions of OKT8(+) T cells (OKT4/OKT8 = 0.60 to 1.0 as compared with 1.7+/-0.2 for control subjects). All four patients with congenital agammaglobulinemia, and three of seven patients with common variable immunodeficiency also had low T cell ecto-5'-nucleotidase activity (<5.5 nmol/h per 10(6) cells). Ecto-5'-nucleotidase activity in OKT4- enriched populations isolated from four patients with low total T cell activity was 2.85+/-0.90 nmol/h per 10(6) cells with 10+/-4% positive by histochemical stain; that in OKT8-enriched populations was 6.82+/-1.7 nmol/h per 10(6) cells with 7.5+/-3% positive by histochemical stain. Thus, the number of ecto-5'-nucleotidase positive cells is decreased, especially in the OKT8(+) subpopulation, and the low total T cell ecto-5'-nucleotidase activity seen in these patients is due to fewer positive cells rather than to substantially less activity per cell. Our data indicate that ecto-5'-nucleotidase activity defines two subpopulations of T lymphocytes (ecto-5'-nucleotidase positive and negative), the proportions of which are markedly altered in many patients with hypogammaglobulinemia. In preliminary studies with seven patients, increased numbers of ecto-5'-nucleotidase negative T cells appeared to correlate with increased suppressor T cell activity toward in vitro immunoglobulin synthesis. Therefore, ecto-5'-nucleotidase may be a useful cell surface marker in the study of imbalances of regulatory T cell subsets in patients with antibody synthesis disorders.

Adenosine Deaminase↗

PubMedDate not supplied

Malignant solid tumors associated with congenital immunodeficiency disorders.

This objective of this study was to evaluate patients with immunodeficiency syndromes who had developed malignant solid tumors and to examine survival rates and prognosis with respect to type of immunodeficiency disease. Twenty-two patients who were diagnosed with malignant solid tumors and immunodeficiency syndromes between January 1972 and February 2003 were analyzed retrospectively. There were 12 (55%) patients with non-Hodgkin lymphoma, 8 (37%) with Hodgkin disease, 1 (5%) with mucinous adenocarcinoma of the colon, and 1 (5%) with brain stem glioma. Fifteen (68%) patients had ataxia-telangiectasia, 3 (14%) had common variable immunodeficiency disease, 2 (9%) had Bloom syndrome, 1 (5%) had combined immunodeficiency, and 1 (5%) had selective immunoglobulin A deficiency. Out of the 15 patients with ataxia-telangiectasia 9 patients had non-Hodgkin lymphoma, 5 had Hodgkin disease, and 1 had brain stem glioma. Two patients with common variable immunodeficiency disease had non-Hodgkin lymphoma and 1 had Hodgkin disease. One of the patients with Bloom syndrome had Hodgkin disease and 1 had colon carcinoma. The overall survival for the whole group was 24%. Overall survival rates in non-Hodgkin lymphoma, Hodgkin disease, colon carcinoma, and brain stem glioma were 17, 44, 0, and 0% (p =.25), respectively. Overall survival in ataxia-telangiectasia patients was 20%. In this series, most of the patients had ataxia-telangiectasia (68%). The survival rates of the malignant diseases were very poor in immunodeficiency. Overall survival in non-Hodgkin lymphoma patients was relatively worse than Hodgkin disease patients.

Adolescent↗

PubMedDate not supplied

Fatal outcome in a patient with metastatic prostate cancer and acquired severe hypogammaglobulinemia with complete absence of mature peripheral blood B-cells.

Common variable immunodeficiency (CVID) is the second most common immunodeficiency and may be classified according to the presence or absence of mature B-cells, the latter subgroup being exceedingly rare. We describe a 66-year-old patient who over six months developed profound hypogammaglobulinemia associated with a complete absence of circulating B-lymphocytes and had a fatal outcome. Immunophenotypic analysis of a bone marrow aspirate demonstrated a strongly reduced number of B-cell precursors (CD34+/CD19+) but normal numbers of CD34+/CD45+ hematopoietic progenitor cells. This case is remarkable with respect to its documented rapid evolution. Possible triggers are discussed, a combination of drug toxicities being the most likely.

Adenocarcinoma↗

PubMedDate not supplied

[Molecular diagnosis of primary immunodeficiencies].

Knowledge of the molecular defects responsible for some primary immunodeficiency diseases (PIDs) offers undoubted advantages in establishing a reliable diagnosis. Such knowledge would allow us not only to establish a prognosis but also to instigate the most appropriate therapy. After molecular diagnosis, some patients could benefit from gene therapy. However, apart from the diagnosis of the disease, molecular biological techniques also enable more reliable identification of carriers and, when suggested by the family history and when the familial defect is already known, prenatal diagnosis will also be possible, thus establishing the earliest possible treatment. Using the single-stranded conformational polymorphism technique followed by direct sequencing, we found 22 different mutations in 22 patients from unrelated families and with a phenotype compatible with x-linked agammaglobulinemia. Fourteen of these are new, previously undescribed mutations and the remaining eight are already included in the data base (http://www.uta.fi/imt/bioinfo/Btkbase). Analysis of the female carrier was performed in all the mothers and the mutation was de novo in only one patient. Study of the BtK gene enabled differential diagnosis with common variable immunodeficiency disease in some patients who showed absent or very low lymphocyte B counts as well as forms of autosomal recessive agammaglobulinemia. Using the same techniques, we were able to identify mutations in the CD40 ligand gene in three families in which one of the members had clinical and biological phenotype compatible with X-linked hyper-IgM. Molecular diagnosis was very useful in identifying carriers in these families as well as in making the differential diagnosis among patients with common variable immunodeficiency disease. Purely on this were we able to provide appropriate genetic counseling.

Adult↗

PubMed1993

Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications.

The records of 240 patients with common variable immunodeficiency, seven with thymoma-associated hypogammaglobulinaemia and 44 patients with X-linked agammaglobulinaemia seen at this centre over the past 20 years, were reviewed. Although substantial advances have been made in treatment there continues to be a delay in diagnosis, as well as high mortality and morbidity rates. Hypogammaglobulinaemia is associated with a high incidence of chronic sinopulmonary infection, chronic diarrhoea, malignancy, joint disease and hepatitis. There is particular concern that infection with mycoplasmas and enteroviruses can be resistant to treatment. The high incidence of lymphoma and gastric carcinoma in patients with common variable immunodeficiency is high-lighted.

Adolescent↗

PubMed1990

Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-telangiectasia.

In ataxia-telangiectasia, B-cell and T-cell deficiencies are thought to be due to a defect of rearrangements of immunoglobulin and T-cell receptor genes. T cells recognize antigens through two types of CD3-associated receptors: alpha/beta chains on mature cells and gamma/delta chains mostly on immature cells. We studied 10 patients with ataxia-telangiectasia and found that most had a relative increase of circulating T cells bearing gamma/delta receptors rather than alpha/beta receptors, as compared with normal subjects (P less than 0.001). Patients with other immune deficits, including eight with common variable immunodeficiency, one with Wiskott-Aldrich syndrome, two with hyperimmunoglobulinemia E syndrome, and one with severe combined immunodeficiency, had normal ratios of gamma/delta-bearing to alpha/beta-bearing cells. A marked predominance of gamma/delta-bearing T cells was found in a patient with a primary T-cell defect. The relative increase in gamma/delta-bearing T cells in the patients with ataxia-telangiectasia was largely accounted for by cells that reacted with the monoclonal antibody BB3, an apparently distinct subset of T cells that selectively express the C gamma 1 gene product of the T-cell receptor. Although they had normal ratios of gamma/delta-bearing to alpha/beta-bearing T cells, the patients with common variable immunodeficiency had a significant increase (P = 0.01) in the number of T cells expressing C gamma 2 that reacted with the monoclonal antibody delta-TCS-1. We conclude that the increased ratio of gamma/delta-bearing to alpha/beta-bearing T cells in ataxia-telangiectasia may reflect both a recombinational defect that interferes with T-cell and B-cell gene rearrangements and an inability to repair damage to the DNA.

Adolescent↗

PubMed1995

[Defects in the immunoglobulin producing cells in bone marrow of patients with variable immunodeficiency syndrome].

The number of plasma cells, IgG+, IgA1+, IgA2+ and IgM+ cells were determined in bone marrow (BM) biopsies of 12 patients with common variable immunodeficiency syndrome (CVID) and 12 controls without signs of immunodeficiency. Controls had a median of 11 plasma cells/mm2, 76 IgG+, 76 IgA+ and 18 IgM+ cells/mm2 BM, respectively. Compared with the control group, the CVD patients showed a significant reduction of each cell type (p < 0.001). They also demonstrated a close correlation between low numbers of IgG+ and IgA+ cells in the BM and low IgG and IgA serum levels. In general, there was also a good correlation of the IgM+ cells and the respective IgM levels in the serum, except 2 CVID patients with normal IgM serum levels and subnormal numbers of IgM+ cells in the BM. Our results showed that there was an almost complete coincidence between the reduced numbers of Ig-producing cells in the BM and low serum levels of the respective Ig isotype. Thus, immunohistological analysis may be of additional help for the diagnosis of immunodeficiency.

Antibody-Producing Cells↗

PubMed1986

Phenotypically immature IgG-bearing B cells in patients with hypogammaglobulinemia.

We investigated the prevalence of phenotypically immature IgG B cells (i.e., coexpressing surface IgG and IgM) in the peripheral blood of 12 patients with hypogammaglobulinemia and in normal individuals. Patients had ataxia-telangiectasia (N = 1), hyper-IgM combined immunodeficiency (N = 1), or common variable immunodeficiency (CVI). IgG/IgM-positive B cells were evaluated by two-color immunofluorescence using fluorescein- or rhodamine-conjugated goat antiserum; to minimize artifacts due to in vivo cytophilic binding of autologous IgG, cell-bound cytophilic Ig were eluted at pH 4 and Fc receptors were blocked by heat-aggregated rabbit IgG before fluorescent staining. All patients, except two with late-onset CVI, had markedly increased proportions of double-stained IgG B cells (56 to 100% of IgG-bearing B cells) in comparison with normal individuals (11 to 33%).

Adult↗

PubMed2005

The current status of gene therapy in autologous transplantation.

Autologous hematopoietic cells have been used as targets of gene transfer, with applications in inherited disorders, cell therapy, and acquired immunodeficiency. The types of cells include hematopoietic progenitor cells, lymphocytes, and mesenchymal stem cells. The inherited disorders thus far approached in clinical trials include severe combined immunodeficiency, common variable gamma-chain immunodeficiency, chronic granulomatous disease, and Gaucher disease. Preclinical studies are vigorously under way in thalassemia, sickle cell anemia, Wiskott-Aldrich syndrome and Fanconi anemia. Clinical trials of immunological therapy with gene-modified lymphocytes are under study in the treatment of malignancies. Clinical trials using anti-viral strategies for HIV infection in combination with autologous transplantation have begun, with additional approaches being developed. Gene therapy vectors are being developed to eliminate tumor cells contaminating autologous stem cell products. However, the risk of insertional mutagenesis and the potential for development of leukemia was highlighted by the first gene therapy trials in inherited immunodeficiency syndromes that achieved a therapeutic effect. Despite the slow progress of the field to date, there is extraordinary promise for gene therapy in the future.

Animals↗

PubMed2001

[Late onset immunodeficiency with hypo-IgG and hyper-IgM, T CD4+ lymphocytopenia and vitiligo].

The Authors report the clinical case of a patient with a deficit of humoral immunity who developed infections since puberty. The serum levels of IgG and IgA decreased progressively in the fourth decade of life, while serum IgM increased. Moreover, the patient developed a marked CD4+ T lymphocytopenia and a meager B lymphocytopenia, vitiligo, positivity for anti-SSA/Ro autoantibodies and granulomatous phlogosis of the knee. The heterogeneity of the clinical and laboratory data suggests that this patient might present an overlap immunodeficiency syndrome with some of the clinical and immunological features typical of the hyper-IgM syndrome (in the X-linked or autosomal forms) and others that can be referred to a nosologically distinct humoral immunodeficiency such as the common variable immunodeficiency.

Adult↗

PubMed1996

[Immunodeficiency with thymoma (Good's syndrome) similar to sino-bronchial syndrome].

A 58-year-old man was admitted to our hospital because of recurrent pulmonary infections that began three years previously. Laboratory data showed hypogammaglobulinemia and a chest computed tomogram showed diffuse bilateral micronodular shadows and an anterior mediastinal tumor. Immunodeficiency with thymoma (Good's syndrome) was diagnosed. After undergoing a thymectomy, he received intravenous gamma-globulin injections once a month for prophylaxis. Good's syndrome occurs rarely in Japan. A solid tumor-like shadow is not necessarily observed in routine chest X-ray studies, and hypogammaglobulinemia is one sign of this syndrome. The hypogammaglobulinemia of Good's syndrome should be carefully differentiated from that of other immunodeficiency diseases such as common variable immunodeficiency, the acquired immunodeficiency syndrome, chronic lymphocytic leukemia, non-Hodgkin's lymphoma, and multiple myeloma (non-secretory type).

Agammaglobulinemia↗

PubMed1994

Cutaneous sarcoid-like granulomas in primary immunodeficiency disorders.

We report the occurrence of cutaneous sarcoid-like granulomas in one patient with common variable immunodeficiency and another with 'thymoma and hypogammaglobulinaemia'. To our knowledge, this is the first time that such skin lesions have been described in patients with primary immunodeficiency. These granulomas may be attributed to a combination of interleukin-2 deficiency and a profound CD4 lymphopenia. The lesions are similar to the non-infectious 'papular eruption' associated with human immunodeficiency virus infection, and might reflect a common pathogenic mechanism.

Adult↗

PubMed1985

Infections of the nose and paranasal sinuses in adult patients with immunodeficiency.

Twenty-two patients with common variable immunodeficiency (CVID) and 18 patients with selective IgA deficiency were examined with respect to previous and present infections of the upper respiratory tract (URT), especially of the nose and paranasal sinuses. Recurrent acute rhinosinusitis was common in both groups of patients, but the development of chronic rhinosinusitis was only found in patients with CVID, indicating the more severe nature of this condition compared with selective IgA deficiency. The infections of the URT occurred several years before the appearance of lower respiratory tract (LRT) infections. Once the infections of the LRT had started, the patients had a tendency to neglect the symptoms from the URT. Early detection of antibody deficiency syndromes is of vital importance for prevention of repeated and chronic infections often causing tissue damage in the respiratory tract.

Adolescent↗

PubMed1999

Necrotizing ulcerative periodontitis associated with severe congenital immunodeficiency in a prepubescent subject: clinical findings and response to intravenous immunoglobulin treatment.

Common variable immunodeficiency (CVID) is a rare multifactorial congenital disease of genetic origin caused by an impairment in the secretion of specific immunoglobulins. It manifests systemically through recurrent respiratory infections, gastrointestinal disorders and autoimmune diseases. Oral manifestations may include gingivitis and lichenoid lesions with Wickham's striae. The treatment for CVID is supported by using intravenous infusion of immunoglobulins (IVIG) that allows for control of the disease and avoidance of recurrent opportunistic infections. This report presents a case of necrotizing ulcerative periodontitis (NUP) in a young patient with CVID, and correlates his periodontal status with systemic conditions before and after IVIG administration during 1 year of evaluation.

Child↗

PubMedDate not supplied

Effects of intravenous immunoglobulin on clinical and immunological findings of patients with humoral immunodeficiency diseases.

We evaluated nine patients with humoral immunodeficiency (6 immunodeficiency with hyper-IgM, 2 X-linked agammaglobulinemia, 1 common variable immunodeficiency) who were being treated with intravenous immunoglobulins (IVIG). After the use of the IVIG regimen in a dose of 250-300 mg/kg/4 weeks for one year, the severity and frequency of infections, even in patients with chronic lung disease, decreased significantly. An improvement in pulmonary function tests was observed in four patients who had airway obstruction prior to IVIG therapy. Side effects such as chills and fever were observed in 21 of 91 infusions, particularly in the early months of therapy. Preinfusion administration of aspirin and diphenhydramine prevented these side effects. The inversion of the CD4+/CD8+ ratio was detected in most patients during both intramuscular gammaglobulins (IMIG) and IVIG therapy.

Adolescent↗

PubMed1997

The spectrum of primary immunodeficiency disorders in Australia.

BACKGROUND: Primary immunodeficiency disorders (PIDs) are uncommon conditions that require specialized immunologic services for diagnosis and management. It is difficult to estimate the prevalence of these disorders from routinely collected health statistics. OBJECTIVE: We attempted to describe the prevalence of PID in Australia and the requirements for specific therapies, such as intravenous immunoglobulin, ascertained from a national register of PID. METHODS: A national longitudinal cross-sectional survey of patients with PID under the care of clinical immunologists was established by the Australasian Society of Allergy and Clinical Immunology in 1990. Details of diagnosis and therapy were provided for patients with major PIDs including symptomatic IgA, IgG subclass, and complement deficiencies. Subjects with asymptomatic IgA deficiency were not included. The clinical features of the first 500 cases enrolled in the register were analyzed. RESULTS: The most frequent type of PID was predominant antibody deficiency (71%). Common variable immunodeficiency, usually first seen as an antibody deficiency, was the single most common disorder with an estimated prevalence of 0.77/100,000 in the general population. Other types of PID were infrequent, and of these, severe combined immunodeficiency accounted for 5.2% of cases. The estimated prevalence of all forms of chronic granulomatous disease was 0.08/100,000. The national prevalence of all PID cases ascertained from the register was 2.1/100,000, with variation between the larger states ranging from 1.18 to 4.57/100,000. Half (247) of the patients were receiving intravenous immunoglobulin therapy with a median duration of care of 5 to 9 years for the different antibody deficiencies. There was also variation in the patterns of intravenous immunoglobulin use across the country. No new forms of PID were encountered. CONCLUSION: This study highlights the requirement for the continuing provision of immunoglobulin as replacement therapy for these patients. In addition, the register documents a cohort of patients with PID whose long-term response to current therapy can be evaluated prospectively.

Adolescent↗

PubMed2002

Neutropenia associated with primary immunodeficiency syndromes.

The primary immunodeficiency diseases are a heterogeneous group of more than 75 disorders characterized by intrinsic defects in the functions of the immune system. Many are associated with abnormalities of hematopoiesis as well. This article will review those primary immunodeficiency syndromes in which neutropenia is a prominent finding, including X-linked agammaglobulinemia (XLA), hyper IgM syndrome, common variable immunodeficiency (CVID), IgA deficiency, cartilage-hair hypoplasia (CHH), and reticular dysgenesis, with regards to pathophysiologic findings and treatment.

Agammaglobulinemia↗

PubMedDate not supplied

Cutaneous granulomas masquerading as tuberculoid leprosy in a patient with congenital combined immunodeficiency.

Combined immunodeficiency disorders are characterized by abnormalities in cellular and humoral immunity. This classification includes common variable immunodeficiency (CVI), a primary immunodeficiency disorder characterized by hypogammaglobulinemia, recurrent bacterial infections, and significant T-cell abnormalities. Associated autoimmune diseases include rheumatoid arthritis, pernicious anemia, idiopathic thrombocytopenic purpura, and systemic lupus erythematous. Granulomatous lesions in lymphoid tissues, solid organs, and skin have been reported. We describe a patient with CVI who developed cutaneous granulomas with perineural invasion; to our knowledge, this is a previously undescribed feature.

Adult↗