[Mesenteric panniculitis and common variable immunodeficiency].
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Common Variable Immunodeficiency↗
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Current perspectives on common variable immunodeficiency (CVID).
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Common Variable Immunodeficiency↗
Common variable immunodeficiency.
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Common Variable Immunodeficiency↗
[Common variable immunodeficiency].
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Common Variable Immunodeficiency↗
Evidence for increased expression of regulatory cytokine receptors interleukin-12R and interleukin-18R in common variable immunodeficiency.
We investigated the expression of T helper (Th)1/Th2 regulatory cytokine receptors on lymphocytes from patients with common variable immunodeficiency (CVID), a disorder associated with raised Th1 cytokine production, comparing the results with those from healthy individuals and atopic asthmatics, the latter generally considered to have a Th2-driven disease. We proposed that alterations in some of the relevant receptors might be related to the observed imbalances in Th1/Th2 cytokines. Cells from CVID patients showed an increase in the percentages of CD212 [interleukin (IL)-12Rbeta1] cells within the CD4+ CD45RA+ and CD8+ CD45RA+ subsets (24% and 41%, respectively), as compared to CD4+ CD45RA+ and CD8+ CD45RA+ in healthy subjects (6% and 23%, respectivey). Approximately 21% of the CD4+ CD45RA+ naïve cells expressed IL-18Ralpha, compared with 11% in healthy subjects. In contrast, the cytokine-receptor expression in asthmatics was similar to that of controls. In spite of the above differences, after 72 h of stimulation with anti-CD3 and anti-CD28, cytokine receptor up-regulation was similar in all three groups, with up to 80% of both CD45RA+ and CD45RO+ lymphocytes expressing CD212 (IL-12Rbeta1) and IL-18Ralpha. Approximately 50% of the 'naïve', and 25% of the 'memory' subpopulations up-regulated IL-12Rbeta2. These findings provide further evidence of a polarization towards a Th1 immune response in CVID, the mechanism possibly involving up-regulation of IL-12-mediated pathways.
Adult↗
Childhood common variable immunodeficiency with autoimmune disease.
Clinical and laboratory findings in eight patients with childhood common variable immunodeficiency and autoimmune disease are described. Six of the eight patients had initial signs of the disease, persistent secretory diarrhea, recurrent upper respiratory tract infections, or both, in the first year of life. Autoimmune manifestations included idiopathic thrombocytopenia (4/8), hemolytic anemia (3/8), secretory diarrhea (4/8), arthritis (2/8), chronic active hepatitis (2/8), parotitis (2/8), and Guillain-Barré syndrome (2/8). In addition to the expected sinusitis, otitis, and pneumonia caused by encapsulated bacteria, these patients also had severe infections with viruses of the herpes group. Most of these patients had lymphadenopathy, splenomegaly, growth failure, and failure to develop secondary sexual characteristics. Laboratory studies demonstrated a significant increase in the ratio of T cells expressing the T helper phenotype (OKT4) to T cells expressing the T suppressor-cytotoxic phenotype (OKT8) (T4/T8). This increase could be attributed to a decrease in the absolute number of T8 cells. Additional findings included fluctuating levels of serum immunoglobulins and markedly diminished in vitro antibody production by B cells. The clinical course was relapsing and remitting, and dominated by the autoimmune manifestations of the disease. This group of patients constitutes a distinct subset of children with hypogammaglobulinemia, a subset with a complex, multisystemic disorder associated with significant morbidity and mortality.
Adolescent↗
Partial reversal of the cellular immune defect in common variable immunodeficiency with indomethacin.
We administered indomethacin (25 mg q.i.d.) to two patients with common variable immunodeficiency and measured the effect on their depressed cellular immune responses. The in vitro response of both patients' lymphocytes to phytohemagglutinin increased during indomethacin administration. Both patients were anergic to skin testing before treatment and responded to two of four skin tests during treatment with indomethacin. Thus indomethacin administration in vivo appears to enhance the cellular immune respone, paralleling its previously described effects in vitro.
Adolescent↗
Long-term follow up of patients with common variable immunodeficiency treated with intravenous immunoglobulin: reevaluation of intravenous immunoglobulin replacement therapy. IVIG therapy in CVID.
Five patients with common variable immunodeficiency treated in our hospital between December 1979 and December 1990 were given six kinds of intravenous immunoglobulin preparations (pepsin treated, S-sulfonated, polyethylene glycol treated, pH4 treated, alkylated, and pH4.25 formulation preparation) for replacement therapy. Duration of the therapy ranged from 7.6 to 11 years. Incidences of fever and acute infections were variable among patients, but no significant differences were seen in the incidences among periods given each preparation. Three cases revealed abnormal pulmonary functions in tests. Adverse reactions were rarely seen in our study periods, and no severe reactions were observed. No significant differences were seen in incidences of adverse reactions. Postinfusion levels of serum complement slightly decreased from preinfusion levels. However, the decrease in complement was not related to any adverse reaction. No long-term complications such as transmission of hepatitis have been observed. Our data suggest that no obvious differences exist between the efficacy and safety of each IVIG preparation. Differences of efficacy of IVIG replacement therapy may be due to the variable pathophysiology of each patient.
Adolescent↗
On interleukins 4, 6 and 10 and their interrelationship with immunoglobulins G and M in common variable immunodeficiency.
Following culture of human peripheral blood mononuclear cells (PBMNC) from 25 normal donors and 15 patients with common variable immunodeficiency (CVID), we were unable to identify any IL10-defective patients. Clear-cut effects of IL4 could be demonstrated in controls, while in CVID all effects are less pronounced. While in both controls and CVID baseline levels of IL6, IgG and IgM were found to be correlated, this was altered by the addition of either IL4 or Poke Weed Mitogen (PWM). We therefore conclude that the inability of PBMNC to produce IL10 is not the cause of CVID in our patients. In CVID, the regulating circuitry triggered by IL4 remains principally intact, however, some subgroups of CVID behave significantly differently.
Adult↗
Common variable immunodeficiency: a clinical and laboratory evaluation of 15 cases.
The clinical and laboratory data for 15 patients with common variable immunodeficiency (CVI) (5 females and 10 males aged 3 years and 6 months to 40 years at first examination) were evaluated. The age of onset of infectious signs and symptoms ranged from 6 months to 35 years. Recurrent pulmonary infections predominated (86.6%), followed by chronic diarrhea (46.6%). Approximately 60% of the patients with pulmonary complaints presented chronic sequelae (bronchiectasis). Two developed a polymyositis-like picture. No neoplasms were observed. All patients presented immunoglobulin levels below 300 mg/dl and absence of antibody responses to poliovirus and to hemagglutinin. Two patients were negative when tested for autoimmunity. Cell immunity tested by the lymphoproliferative response in the presence of phytohemagglutinin was normal in 11 patients and depressed in 4. A decrease in the helper T population and inversion of the OKT4/8 ratio occurred in 13. Cimetidine treatment (1200 mg/day) applied to 5 patients for 4 weeks did not produce any clinical or laboratory improvement. Gamma globulin is the treatment of choice for these patients.
Adolescent↗
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.
The functional interaction of BAFF and APRIL with TNF receptor superfamily members BAFFR, TACI and BCMA is crucial for development and maintenance of humoral immunity in mice and humans. Using a candidate gene approach, we identified homozygous and heterozygous mutations in TNFRSF13B, encoding TACI, in 13 individuals with common variable immunodeficiency. Homozygosity with respect to mutations causing the amino acid substitutions S144X and C104R abrogated APRIL binding and resulted in loss of TACI function, as evidenced by impaired proliferative response to IgM-APRIL costimulation and defective class switch recombination induced by IL-10 and APRIL or BAFF. Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. Although signs of autoimmunity and lymphoproliferation are evident, the human phenotype differs from that of the Tnfrsf13b-/- mouse model.
Amino Acid Sequence↗
IL-10 production and CD40L expression in patients with common variable immunodeficiency.
The authors studied CD40 ligant (CD40L) expression and interleukin-10 (IL-10) production in 16 patients with common variable immunodeficiency (CVI). Mean CD40L expression, determined by using cytofluorimetry, and measured as the mean fluorescence intensity following stimulation of peripheral blood mononuclear cells (PBMC) with phorbol myristate acetate (PMA) and calcium ionophore in 12 patients, was comparable to that of controls. However, three CVI patients showed fluorescence intensity in stimulated cells below 2 standard deviations of normal donors' mean and two other patients had only a slight increase of stimulated versus unstimulated cells (< 10 channels). IL-10 production after stimulation of PBMC with both anti-CD3 or anti-CD3 plus PMA gave similar results in CVI patients and normal controls. In vitro stimulation of PBMC with anti-CD40 and various combinations of cytokines (IL-2, IL-4 and IL-10) induced IgG production above 100 ng/ml in one CVI patient out of 13 tested. The data suggest that alterations of IL-10 production are unlikely to play a major role in the pathogenesis of impaired IgG production in most CVI patients. CD40L appears to be normally expressed in two thirds of CVI patients, but it may be functionally defective.
Adolescent↗
Elevated serum interleukin (IL)-12p40 levels in common variable immunodeficiency disease and decreased peripheral blood dendritic cells: analysis of IL-12p40 and interferon-gamma gene.
Common variable immunodeficiency disease (CVID) is a heterogeneous syndrome characterized by low immunoglobulin serum levels and recurrent bacterial infections. Several studies suggest that CVID patients have a polarized immune response towards a T helper type 1 phenotype (TH1). However, the factors causing the TH1 polarization remain to be determined in this disease. In the present study, serum interleukin (IL)-12, interferon (IFN)-gamma levels and the IL-12p40 and IFN-gamma gene were studied in CVID patients. Furthermore, we evaluate dendritic cells (DCs) compartment, myeloid dendritic cells (mDCs) and plasmocytoid dendritic cells (pDCs), which help to differentiate naive T cells preferentially into TH1 and TH2, respectively. The serum IL-12p40 subunit levels were increased significantly in CVID patients compared to healthy controls. We examined whether these elevated serum IL-12p40 levels are associated with IFN-gamma or IL-12p40 gene polymorphisms, or with new mutations in the IL-12p40 promoter gene. In our hands, no new mutations were found and gene polymorphisms frequencies in CVID patients were similar to the control population. In conclusion, the elevated serum levels of IL-12p40 found in our CVID patients were not related to these genetic variations. The DC compartment analysis did not show an imbalance between pDCs and mDCs, but revealed the presence of low numbers and percentage of both DC populations in CVID.
Blood Cell Count↗
Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency.
We have proposed that significant subsets of individuals with IgA deficiency (IgA-D) and common variable immunodeficiency (CVID) may represent polar ends of a clinical spectrum reflecting a single underlying genetic defect. This proposal was supported by our finding that individuals with these immunodeficiencies have in common a high incidence of C4A gene deletions and C2 rare gene alleles. Here we present our analysis of the MHC haplotypes of 12 IgA-D and 19 CVID individuals from 21 families and of 79 of their immediate relatives. MHC haplotypes were defined by analyzing polymorphic markers for 11 genes or their products between the HLA-DQB1 and the HLA-A genes. Five of the families investigated contained more than one immunodeficient individual and all of these included both IgA-D and CVID members. Analysis of the data indicated that a small number of MHC haplotypes were shared by the majority of immunodeficient individuals. At least one of two of these haplotypes was present in 24 of the 31 (77%) immunodeficient individuals. No differences in the distribution of these haplotypes were observed between IgA-D and CVID individuals. Detailed analysis of these haplotypes suggests that a susceptibility gene or genes for both immunodeficiencies are located within the class III region of the MHC, possibly between the C4B and C2 genes.
Agammaglobulinemia↗
Common variable immunodeficiency.
We present a case report and review of the literature that illustrates many key features of patients with common variable immunodeficiency (CVID). These patients frequently present with repeated infections with a variety of different microorganisms. Recurrent sinopulmonary infections can lead to serious chronic complications such as bronchiectasis, and gastrointestinal infections can result in malabsorption. In addition to serious infection, CVID is associated with a number of comorbid disorders including a variety of autoimmune diseases and neoplasms. Here, we provide an illustrative case report and discuss the primary features and therapy for patients with CVID.
Common Variable Immunodeficiency↗
[Common variable immunodeficiency concomitant with liver cirrhosis--case report].
The authors present a report of a seventeen year old girl with common variable immunodeficiency (CVID) and liver cirrhosis. A child of healthy, non-consanguineous parents was diagnosed at the age of 13 years to have immune deficiency and an early stage of liver cirrhosis. Patient revealed the following signs of immune deficiency: decreased level of serum immunoglobulins, considerably decreased number of B cells and CD4 cells and a lack of proliferative response to mitogen stimulation. The USG, scintigraphy and biopsy of liver confirmed the diagnosis of liver cirrhosis. The patient has been receiving intravenous immunoglobulins (IVIG) as substitutional treatment of CVID.
Adolescent↗
Common variable immunodeficiency in an adult.
Primary immunodeficiency syndromes are rarely diagnosed among adults. In this report, we describe a young male who had common variable immunodeficiency. He was treated with intravenous immunoglobulin and, on follow up, has been free of opportunistic infections.
Adult↗
CD8+ T cell populations in common variable immunodeficiency.
In a subgroup of CVID T cell abnormalities have been reported. Peripheral blood T lymphocytes from patients with common variable immunodeficiency (CVID) and blood donors were examined for expression of CD8alpha, CD8beta and CD28. In CVID, three CD8+ T cells could be defined: CD8beta(high)CD28+ (expressing CD8beta at a high median fluorescence intensity), CD8beta(low)CD28+ and CD8beta(low) CD28- cells. The number of CD8beta(low) cells was markedly increased compared to blood donors. After activation, CD8beta(high)CD28+ cells from cord blood differentiated into CD8beta(low) CD28- cells. Therefore, CD8beta(low) cells are induced by activation even in normal donors, but may reflect inflammatory activity in CVID.
CD8-Positive T-Lymphocytes↗