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PubMed2002

A preliminary assessment of alpha-1 antitrypsin S and Z deficiency allele frequencies in common variable immunodeficiency patients with and without bronchiectasis.

Common variable immunodeficiency (CVID) is the name given to a clinically heterogeneous group of hypogammaglobulinaemic immunodeficiency states. Bronchiectasis is a feature of this disease and is believed to be the result of recurrent bacterial infection affecting the respiratory tract. Bronchiectasis is also a feature associated with emphysematous changes of the lung in alpha-1 antitrypsin (AAT) deficiency, a serious and relatively common disease, affecting 1 : 2000 in the United Kingdom. This has been demonstrated to result from possession of deficiency alleles, the most clinically important alleles being PI*Z and PI*S. Isolated reports of families with antibody deficiency and AAT deficiency have been published but to date no study has been performed to specifically investigate if AAT deficiency is associated with the lung damage seen in CVID patients. We have developed a PCR genotyping assay that identifies S and Z deficiency alleles and we have used this assay in a preliminary study to investigate the occurrence of these deficiency alleles of AAT in 43 CVID patients. Results of this preliminary study suggest that CVID patients did not have an altered distribution of AAT genes when compared to 70 normal controls. Subgrouping of CVID patients into those with and without bronchiectasis demonstrated a Z allele frequency of 0.077 in those patients with bronchiectasis, which is higher than found in normal controls, namely 0.029 (P < 0.15). Due to the relatively small numbers studied, these results are inconclusive in determining whether AAT deficiency may exacerbate lung damage in some CVID patient, the data does however, indicate that a larger multi-centre study involving many more CVID patients may be useful.

Adult↗
PubMed2006

Monogenetic defects in common variable immunodeficiency: what can we learn about terminal B cell differentiation?

PURPOSE OF REVIEW: In human primary immunodeficiencies, more than 100 different genetic defects have been described. For the most prevalent primary immunodeficiency requiring medical attention, however, termed common variable immunodeficiency, no genetic cause had been defined until recently. In this review we will summarize the current progress in the molecular genetics of common variable immunodeficiency and put them in context with other important developments in the field. RECENT FINDINGS: In recent years the first three monogenetic defects in the inducible costimulator, transmembrane activator and CAML interactor (TACI), and CD19 were discovered in patients with common variable immunodeficiency revealing a multifaceted genetic background for this disease. As a concise phenotype cannot be assigned to each of these genetic defects, there is a need for further development of classification systems for common variable immunodeficiency and the search of epigenetic factors influencing the course of the disease. Subgroups of common variable immunodeficiency patients with low IgM memory B cells may suffer from an increased rate of infections. Human herpes virus type 8 infections were identified as a risk factor for the development of granulomatous disease complications. SUMMARY: The pathogenesis of common variable immunodeficiency shows a convergence on impaired terminal B cell differentiation. Recently discovered genetic defects support this view. A combined effort of genetic analysis and standardized assessment of immunological and clinical phenotypes will be necessary to further unravel the conundrum of common variable immunodeficiency.

Antigens, CD↗
PubMedDate not supplied

Common variable immunodeficiency.

We describe a patient with common variable immunodeficiency who three times presented an anaphylactic reaction after intravenous immunoglobulin administration. These reactions were attributed to the total absence of IgG 2, 3 and 4.

Adolescent↗
PubMed2002

Expansion of CD19(hi)CD21(lo/neg) B cells in common variable immunodeficiency (CVID) patients with autoimmune cytopenia.

Common variable immunodeficiency (CVID) is characterized by a severe hypogammaglobulinemia. While the clinical picture is dominated by recurrent respiratory and gastrointestinal infections, a subgroup of up to 30% of the patients develops additional autoimmune phenomena, including thrombocytopenia and autoimmune hemolytic anemia. So far no classification allowed a prediction of the coincidence of immunodeficiency and autoimmunity. Here, we propose the size of the peripheral CD19(hi)CD2(lo/neg) B cell pool as a marker for CVID patients with autoimmune cytopenia and splenomegaly. Interestingly similar B cell populations are also found in patients with SLE and may not only be an epiphenomenon of the disease.

Adult↗
PubMed2000

Peripheral neuropathy associated with common variable immunodeficiency.

We report a patient with common variable immunodeficiency (CVID) who developed an axonal sensorimotor polyneuropathy, a hitherto unreported association to our knowledge. These conditions may be linked at the pathogenetic level, since some CVID patients are prone to the development of autoimmune disease.

Common Variable Immunodeficiency↗
PubMed2005

Common variable immunodeficiency: the immune system in chaos.

Common variable immunodeficiency (CVID) is a heterogeneous disorder that is associated with low serum-immunoglobulin concentrations, defective specific-antibody production and an increased susceptibility to bacterial infections of the respiratory and gastrointestinal tracts. In spite of the identification of genes that are associated with several known primary immunodeficiencies, the basic immunologic and molecular defects of the majority of patients with CVID have remained obscure. Most of the studies aimed at understanding the immunopathogenesis of CVID suggest that this condition is primarily a T-cell disorder, although renewed attention on the genetic linkage and haplotype analysis in families of patients with CVID and on the role of dendritic cells and B cells has revealed several interesting features. This new information should assist in understanding the pathogenesis of CVID and improving the therapeutic strategies.

B-Lymphocytes↗
PubMed2005

Rheumatoid arthritis in a patient with common variable immunodeficiency: difficulty in diagnosis and therapy.

Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency syndrome in adults with equal sex prevalence. The syndrome typically presents as recurrent infections, with onset in childhood or young adulthood (between 20 and 30 years). CVID patients also have a higher prevalence of autoimmune diseases. A 38-year-old woman presented to the Rheumatology Department with polyarthralgia and fever of 39 degrees C of several months' duration. She had recurrent respiratory and gastrointestinal tract infections and pernicious anemia. Immunological studies showed decreased levels of IgG, IgM, complete IgA deficiency, increased percentage of CD8 lymphocytes, and a reduced CD4:CD8 ratio. HLA-DR typing was performed and we identified HLA-DRB1*01. Adequate intravenous immune globulin substitution as well as antibiotic and anti-inflammatory treatment resulted in the remission of arthritis. Hand radiograms repeated after 12 months showed narrowing of the intra-articular space in the right metacarpophalangeal and radiocarpal joints with multiple bone cysts and erosions. Erosions were found in both humeral heads as well. This prompted the diagnosis of rheumatoid arthritis. Arthritis can be a presenting symptom of primary immunodeficiency in adults, especially when accompanied by recurrent infections or autoimmune diseases. These patients require more advanced diagnostic procedures and therapeutic cooperation of different specialists.

Adult↗
PubMedDate not supplied

Common variable immunodeficiency. Old questions are getting clearer.

Common variable immunodeficiency (CVID) is a heterogeneous entity characterized by an impaired ability to produce antibodies. The failure is localized in partially mature B lymphocytes, though T lymphocyte abnormalities are occasionally present. This deficiency affects antibody synthesis and class switch from IgD and IgM, to IgG and IgA. CVID is related to selective IgA deficiency, and both abnormalities may coincide in one same family, and evolve from one to another in the same patient. The symptoms generally manifest in adults, but can occur at any age, even in infancy. Recurrent bacterial infections or pneumonias are frequent, and may be complicated by gastrointestinal problems, granulomas, autoimmune disorders or malignancies. A defect in memory B cells seems to condition the clinical severity. Recently, several mutations in genes encoding for molecules (CD19, TACI, ICOS) involved in B cell survival and isotype switch have been identified in patients with CVID. Nevertheless, genetic abnormalities have been found in less than 25 % of cases with CVID; the underlying mechanism thus remains unknown in the majority of CVID patients, and research in this field must continue.

Adult↗
PubMed2006

Extranodal marginal zone (MALT) lymphoma in common variable immunodeficiency.

We describe two patients with common variable immunodeficiency (CVID) who developed extranodal marginal zone lymphoma (formerly described as mucosa-associated lymphoid tissue lymphoma or MALT lymphoma). One patient, with documented pernicious anaemia and chronic atrophic gastritis with metaplasia, developed a Helicobacter pylori-positive extranodal marginal zone lymphoma in the stomach. Three triple regimens of antibiotics were necessary to eliminate the H. pylori, after which the lymphoma completely regressed. Patient B had an H. pylori-negative extranodal marginal zone lymphoma of the parotid gland, which remarkably regressed after treatment with clarithromycin. Reviewing the literature, we found eight cases of extranodal marginal zone lymphoma complicating CVID, but probably many more cases labelled as non-Hodgkin's lymphoma are hidden in the literature. Until more data are available on the predictive value of noninvasive screening for pathology of the stomach, we recommend endoscopy to assess the gastric status in CVID patients in order to detect these malignancies at an early stage. Elimination of H. pylori infection is the treatment of choice in Helicobacter-positive extranodal marginal zone lymphoma. The possibility of elimination failure, most probably due to frequent and prolonged exposure to antibiotics in this patient group, should be taken into account. Treatment with antibiotics in Helicobacter-negative extranodal marginal zone lymphoma must be considered.

Adult↗
PubMedDate not supplied

Elevated levels of activated CD4 T cells in common variable immunodeficiency: association with clinical findings.

BACKGROUND: Common variable immunodeficiency (CVID) is a very heterogeneous syndrome defined by impaired immunoglobulin production. The primary defect remains unknown, but many reports describe peripheral blood T and B lymphocyte dysfunctions in a substantial proportion of CVID patients. Immunophenotypic alterations on memory B lymphocytes correlate with clinical findings. A B-cell-oriented classification principle of the patients has been proposed. METHODS AND RESULTS: We investigated the expression of activation surface molecules on CD4 and CD8 T-cells from 14 patients with CVID, 6 non-CVID hypogammaglobulinemic patients with recurrent infections, 47 asymptomatic HIV-positive patients without AIDS defining conditions and 23 healthy subjects. Lymphocyte subsets were analysed by three-colour flow cytometry. Monoclonal panel: CD38-FITC/HLADR-PE/CD4 or CD8-PerCP. In CVID patients serum levels of CD4 T-cells co-expressing the activation marker HLA-DR [CD4+DR+ (34 %), CD4+CD38+DR+ (18 %)] were significantly elevated compared with controls. Significant increases in CD8+DR+ (54%), CD8+ CD38+ (43%) and CD8+CD38+DR+ (29%) T-cells were observed in comparison with healthy controls. CVID patients with splenomegaly, lower pre-infusion IgG levels (< 600 mg/dl), autoimmune or lymphoproliferative conditions demonstrated even higher levels of CD4+CD38+DR+T cells (22, 22, 21 and 21% respectively) compared with other CVID patients (13, 13, 15 and 15% respectively). CONCLUSION: These findings indicate a state of ongoing T lymphocyte activation which is associated with clinical findings frequently observed in CVID.

Adult↗
PubMed1991

Ig H chain variable and C region genes in common variable immunodeficiency. Characterization of two new deletion haplotypes.

Common variable immunodeficiency, a disorder characterized by diminished antibody production, manifests clinically as an increased susceptibility to bacterial infections. We have investigated the Ig H chain V and C region gene segments in 33 patients with common variable immunodeficiency, to identify the possible role these genes may have in the molecular basis of the defect. No major deletions were recognized for the VH gene segments of the VH2, VH5, and VH6 families, nor were there any differences in the RFLP patterns of mu- or alpha- switch regions or of C gamma genes. Two new deletion haplotypes were identified for the C region genes, the first encompassing C gamma 1 on a different haplotype from the C gamma 1 deletion described previously, and the second a novel deletion encompassing both C gamma 2 and C gamma 4. Based on these and previously described deletions in the IGHC region, we postulate that homologous regions are involved in the deletion process and that other new deletions likely exist in the population.

Chromosome Deletion↗
PubMed1990

Common variable immunodeficiency in association with Turner's syndrome.

Common variable immunodeficiency is a heterogeneous syndrome which may occur at any age and may be associated with recurrent sinopulmonary and gastro-intestinal infections, atopic illness, autoimmune disorders and varying degrees of hypogammaglobulinaemia (1). The clinical syndrome is very similar to that described in X-linked agamma-globulinaemia but the mode of inheritance is unknown (2). In this communication, a patient with Turner's syndrome with X-isoX chromosomal pattern in conjunction with common variable immunodeficiency is reported.

Adolescent↗
PubMedDate not supplied

Alopecia universalis in a patient with common variable immunodeficiency.

A 12-year-old boy with common variable immunodeficiency (CVI) who developed severe alopecia is presented. His sister also had alopecia and recurrent infections and died of lung infection at the age of 7 years. The loss of hair in both children was total; the pathology of a scalp skin biopsy specimen was typical for alopecia areata. The boy was subjected to clinical and immunologic evaluation and the results were compatible with common variable immunodeficiency.

Alopecia Areata↗
PubMed2003

Effect of interleukin 15 and interleukin 2 on anti-CD3-induced T-cell activation and apoptosis in children with common variable immunodeficiency.

BACKGROUND: Defective T-cell function and susceptibility to apoptosis following activation may contribute to the immunodeficiency observed in common variable immunodeficiency (CVID) patients. Interleukin (IL) 2 benefits CVID children by boosting T-cell function. OBJECTIVE: To investigate the effect of another IL-2 common gamma-chain signaling cytokine, IL-15, on T-cell activation and apoptosis of peripheral blood mononuclear cells (PBMCs) from children with CVID compared with IL-2. METHODS: Five children treated at the Chang Gung Children's Hospital, Taoyuan, Taiwan, during 1998 to 2002 who fulfilled World Health Organization criteria for CVID and 8 age-matched, healthy controls were enrolled. The PBMCs were stimulated with anti-CD3 in the presence or absence of IL-2 and IL-15 for 4 days, followed by 24-hour incubation with anti-Fas to induce apoptosis. Surface expression of CD69, CD25, and CD95 (Fas) on CD3+ T cells was evaluated by flow cytometry. The degree of apoptosis was evaluated by propidium iodide-phycoerythrin/annexin V-fluorescein isothiocyanate flow cytometric staining. RESULTS: Following anti-CD3 activation, CD69 and CD25 expression of CVID CD3+ PBMCs was enhanced to levels comparable to controls. Exogenous IL-15 resulted in further enhancement of anti-CD3-induced CD69 expression to a greater extent than that achieved with IL-2. A greater degree of apoptosis was found in CVID patients than controls following anti-CD3 stimulation (P = 0.001). IL-15 but not IL-2 further increased anti-CD3-induced apoptosis in control PBMCs (P = 0.001). In contrast, the degree of anti-CD3-induced apoptosis in CVID PBMCs was unaffected by IL-15 or IL-2. Addition of anti-Fas to cultures prestimulated with anti-CD3 further increased the apoptosis in control PBMCs but had no effect on apoptosis of CVID PBMCs. CONCLUSION: Comparable anti-CD3-induced activation and enhanced apoptosis were observed in PBMCs from children with CVID compared with controls. The degree of apoptosis in CVID PBMCs was not affected by exogenous IL-15 or anti-Fas, suggesting a preactivated status in vivo.

Adolescent↗
PubMed1989

Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes.

IgA deficiency and common variable immunodeficiency are heritable disorders that can occur within the same family. Both immunodeficiencies are characterized by arrests in B-cell differentiation that vary in the extent of the immunoglobulin isotypes involved. A high frequency of major histocompatibility complex supratypes associated with a null allele of the gene encoding the C4A isotype of complement component C4 has been observed in IgA-deficient individuals. In search of a genetic linkage between the two immunodeficiencies, we examined the major histocompatibility complex (MHC) class III genes encoding complement components C2, C4A, and C4B and steroid 21-hydroxylase in addition to the HLA serotypes in individuals with either common variable immunodeficiency or IgA deficiency. Twelve of 19 patients with common variable immunodeficiency (63%, P less than 0.001) and 9 of 16 patients with IgA deficiency (56%, P less than 0.01) had rare C2 alleles and/or C4A and 21-hydroxylase A deletions, whereas these gene features were seen in only 5 of 34 healthy individuals (15%) in the control group. Nine of 11 patients with C4A deletion had an HLA haplotype consistent with the MHC supratype HLA-A1, Cw7, B8, C4AQ0, C4B1, BfS, DR3 previously found to be associated with IgA deficiency. The data support the hypothesis that common variable immunodeficiency and IgA deficiency are related disorders, susceptibility to which is determined by a gene(s) within or near the MHC class III gene region on chromosome 6.

Alleles↗
PubMed1998

Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency.

The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely variable and include clinical and immunologic findings compatible with common variable immunodeficiency. The screening of 44 patients with common variable immunodeficiency failed to identify any individuals with deficiencies of these enzymes.

Adenosine Deaminase↗
PubMed1991

Danazol therapy for chronic immune-mediated thrombocytopenic purpura in a patient with common variable immunodeficiency.

We describe a patient with common variable immunodeficiency (CVI) and chronic immune-mediated thrombocytopenic purpura (ITP), refractory to treatment with corticosteroids, splenectomy, and intravenous immunoglobulin. He had a prompt response to danazol, and the platelet counts have been maintained in the normal range with low-dose, alternate-day, danazol therapy. This case provides evidence that danazol is effective in the treatment of chronic ITP in patients with immunodeficiency and indicates that some patients can be maintained on an alternate-day regimen.

Adult↗