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PubMed2005

Common variable immunodeficiency: test indications and interpretations.

Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder that can present with multiple phenotypes, all of which are characterized by hypogammaglobulinemia, in a person at any age. A specific genetic defect that accounts for all CVID phenotypes has not been identified, and it is likely that several distinct genetic disorders with similar clinical presentations are responsible for the observed variation. In this review, we summarize the known genetic mutations that give rise to hypogammaglobulinemia and how these gene products affect normal or abnormal B-cell development and function, with particular emphasis on CVID. Additionally, we describe specific phenotypic and genetic laboratory tests that can be used to diagnose CVID and provide guidelines for test interpretation and subsequent therapeutic intervention.

B-Lymphocytes↗
PubMed2005

Common variable immunodeficiency: experience in Puerto Rico.

Common variable immunodeficiency (CVI) is a primary immunodeficiency characterized by hypogammaglobulinemia and an increased susceptibility to infections. The degree and the type of deficiency of serum immunoglobulins, as well as, the clinical course vary from patient to patient, hence the term "variable". The aim of this report is to describe the clinical characteristics and the response to gammaglobulin therapy of a group of patients with CVI followed at the University Hospital of the Puerto Rico Medical Center. To our knowledge, no data on primary immunodeficiencies in Puerto Rico has been reported in the literature. The study group exhibits specific characteristics as compared to other reported series.

Adolescent↗
PubMed2003

[Respiratory manifestations of common variable immunodeficiency in adults].

INTRODUCTION: Sporadic common variable immunodeficiency (CVID) is the most frequent cause of primary humoral immunodeficiency observed in adults. Respiratory complications occur frequently. STATE OF ART: Recurrent bacterial pneumonia and bronchial suppuration are the most frequent complications whilst reactive interstitial pneumonitis (lymphoid interstitial pneumonia and sarcoid-like granulomatosis) and pulmonary lymphoma involvement are rarer. Treatment is based on replacement infusions of gamma globulin (Ig-IV). Although treatment has been shown to reduce the frequency of pulmonary infections, respiratory complications are still responsible for one third of late mortality in CVID. PERSPECTIVES: Type and frequency of respiratory survey has to be defined, as well as the indication for other treatments than Ig-IV. CONCLUSIONS: Protein electrophoresis must be done in a young adult with recurrent low respiratory tract infections and/or diffuse bronchectasis. Hypogammaglobulinemia should result in immunological and hematological investigations which may help to the diagnosis of CVID and to the beginning of the adequate treatment.

Adolescent↗
PubMed2004

Common variable immunodeficiency and the gastrointestinal tract.

Common variable immunodeficiency (CVID) is the second most prevalent primary immunodeficiency disorder but clinically the most important. It causes a wide spectrum of symptoms and signs affecting many systems of the body. CVID is a combination of humoral and cell-mediated deficiency, which explains not only why so many systems are affected but also why standard therapy in the form of intravenous immunoglobulin is not always effective. The gastrointestinal tract is the largest immune organ in the body, and it is therefore expected that this immunodeficiency will affect it in some way. The gastrointestinal manifestations of CVID are variable and tend to mimic known diseases, such as celiac sprue, pernicious anemia, and inflammatory bowel disease, but show significant differences on the microscopic level. Many studies continue to confirm a high prevalence of inflammatory, malignant, and infectious gastrointestinal disorders in patients with CVID. The T-cell-mediated defects of this immunodeficiency disorder are thought to be the cause of the majority of the gastrointestinal disorders in CVID and not the antibody deficiency. Therefore, intravenous immunoglobulin alone may be ineffective. Combination therapy with immunomodulators, such as azathioprine and 6-mercaptopurine, may be needed to treat these gastrointestinal manifestations of CVID.

Common Variable Immunodeficiency↗
PubMed2002

Absence of memory B cells in patients with common variable immunodeficiency.

The molecular basis of common variable immunodeficiency (CVID) is unknown. To assess humoral immunity in CVID, we selected 24 patients with early or late onset of disease. X-linked agammaglobulinemia (XLA), X-linked hyper-IgM syndrome (XHIM), and non-XHIM were excluded based on clinical phenotype, assessment of the immune response, presence of Bruton's tyrosine kinase (Btk) in monocytes or platelets, and normal expression of CD40 ligand by activated T cells. The number of circulating B cells was within the normal range or reduced. IgD(-) CD27(+) memory B cells were markedly reduced or absent in all 24 patients and IgD(+) CD27(+) B cells were diminished in 8 patients. Circulating B cells from all 6 patients examined, including CVID patients with IgD(+) CD27(+) cells, failed to undergo somatic hypermutation in immunoglobulin-variable (V)-region genes, similar to cord blood B cells. B cells from CVID patients produced IgM and IgG, but not IgA upon the engagement of Ig receptor and CD40 in the presence of IL-2 and IL-10. B cells from all but 5 patients secreted IgE when stimulated by CD40 crosslinking in the presence of IL-4. The observation of defective memory B cells with abnormal cell marker expression and function demonstrates that naive CVID B cells including those expressing IgD(+) CD27(+), in analogy to cord blood and hyper-IgM syndrome B cells, may be responsible for their failure to differentiate into plasma cells and to produce high-affinity antibodies of different isotypes.

Adult↗
PubMed2004

Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.

The molecular basis of common variable immunodeficiency (CVID) is undefined, and diagnosis requires exclusion of other diseases including X-linked lymphoproliferative disease (XLP). This rare disorder of immunedysregulation presents typically after Epstein-Barr virus infection and results from defects in the SAP (SLAM associated protein) gene. SAP mutations have been found in a few patients diagnosed previously as CVID, suggesting that XLP may mimic CVID, but no large-scale analysis of CVID patients has been undertaken. We therefore analysed 60 male CVID and hypogammaglobulinaemic patients for abnormalities in SAP protein expression and for mutations in the SAP gene. In this study only one individual, who was found later to have an X-linked family history, was found to have a genomic mutation leading to abnormal SAP cDNA and protein expression. These results demonstrate that SAP defects are rarely observed in CVID patients. We suggest that routine screening of SAP may only be necessary in patients with other suggestive clinical features.

Adolescent↗
PubMed2004

Cytomegalovirus enteritis in common variable immunodeficiency.

A woman with previously undiagnosed common variable immunodeficiency presented with diarrhea and volume depletion. Biopsies from upper and lower endoscopy revealed atrophic gastritis, villous atrophy, and an inflammatory bowel disease-like chronic colitis, with absence of plasma cells in all sites. Cytomegalovirus inclusions were demonstrated in the colon and small bowel mucosa. Despite therapy with intravenous immunoglobulin and ganciclovir, the patient deteriorated rapidly and subsequently died. This case report highlights the potential for cytomegalovirus to cause extensive disease in patients with common variable immunodeficiency and, thus, the importance of considering it in the initial differential diagnosis so that further morbidity and mortality might be prevented.

Aged↗
PubMed1994

Salivary defense factors and oral health in patients with common variable immunodeficiency.

Studies of oral health in patients with common variable immunodeficiency have given controversial results. Obviously, one major factor modifying the oral health of these patients is saliva, in which the antibody-mediated defense is remarkably impaired compared to that of healthy subjects. However, the occurrence of nonimmunoglobulin (innate) antimicrobial agents in saliva of these patients is virtually unknown. Therefore, we analyzed both immune (total IgA, IgG, IgM, anti-Streptococcus mutans IgA, IgG, and IgM antibodies) and nonimmune (lysozyme, lactoferrin, salivary peroxidase, myeloperoxidase, hypothiocyanite, thiocyanate, and agglutinins) factors in whole saliva of 15 patients with common variable immunodeficiency. All patients were on Ig-replacement therapy (median duration, 10 years; range, 2-25 years), which had normalized their IgG but not their IgA or IgM levels both in serum and in saliva. Also, comprehensive clinical and microbiological analyses were made. The control group comprised 15 age- and sex-matched immunologically healthy subjects. The results showed no notable differences in dental caries, periodontal diseases, or salivary microorganisms but the patients had a history of more frequent oral mucosal lesions and respiratory infections. All innate, nonimmune salivary defense factors were equally abundant in the patients as in the controls, in many cases even at somewhat higher concentrations. These findings suggest that in spite of immunodeficiency, patients with common variable immunodeficiency display normal, perhaps even slightly elevated, levels of nonimmunoglobulin defense factors in whole saliva.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2003

[Common variable immunodeficiency--advances in diagnosis, pathogenesis and treatment].

Common variable immunodeficiency (CVI) is one of the most frequent primary immunological disorders. This congenital immunodeficiency, inherited in autosomal recessive way, has not fully elucidated pathogenesis--in spite of over forty years of studies. The cause of the disease seems to be mixed T and B-cell function disorders. Common variable immunodeficiency is characterised by significant variability of symptoms and signs. In the presented paper the definition, basic clinical manifestations of the disease, its course, prognosis are presented, and diagnostic and therapeutic management are discussed. The paper contains also a comprehensive review of current literature presenting modern views on the pathogenesis of CVI, and discussion of CVI variant--Good's syndrome.

B-Lymphocytes↗
PubMed2003

Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings.

Common variable immunodeficiency is a heterogeneous group of disorders with arthritis and/or arthralgia as its most commonly associated autoimmune manifestation. We report 2 cases of common variable immunodeficiency in siblings who also had other unusual signs and symptoms. A 10-year-old boy suffered from bradycardia, hypothermia, hypoglycemia, and chronic eczema. His 13-year-old sister suffered from Kikuchi lymphadenitis, hypoperfusion and atrophy of the left cerebral hemisphere, and hemiparesis. They both showed classical laboratory findings of common variable immunodeficiency and the boy's associated symptoms responded to intravenous immunoglobulin therapy. The findings from these cases suggest that a defect in the neuro-endocrine-immune axis may be one of the genetic bases of common variable immunodeficiency.

Adolescent↗
PubMed2004

The complex genetics of common variable immunodeficiency.

Immunoglobulin (Ig)A deficiency and common variable immunodeficiency (CVID) are the most common primary immunodeficiency disorders in North America and Europe. These diseases appear to comprise a familial spectrum of immunodeficiency that ranges from partial IgA deficiency to a complete absence of serum immunoglobulin. The CVID phenotype is typically acquired and can spontaneously revert to IgG and IgM sufficiency. Family studies suggest the presence of at least two susceptibility loci within the major histocompatibility complex on the short arm of chromosome 6: one located near the class II region and the other located near the junction between the class III and class I regions. Inheritance of these susceptibility genes may yield an additive risk for the development of immunodeficiency. First-degree family members of patients with CVID are at risk throughout their lives for the development of these diseases and should be monitored with a high index of suspicion.

Adolescent↗
PubMed2003

Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency.

Selective IgA deficiency (IgAD) and common variable immunodeficiency (CVID) are the most common primary immunodeficiencies in humans. A high degree of familial clustering, marked differences in the population prevalence among ethnic groups, association of IgAD and CVID in families, and a predominant inheritance pattern in multiple-case pedigrees have suggested a strong, shared genetic predisposition. Previous genetic linkage, case-control, and family-based association studies mapped an IgAD/CVID susceptibility locus, designated IGAD1, to the MHC, but its precise location within the MHC has been controversial. We have analyzed a sample of 101 multiple- and 110 single-case families using 36 markers at the IGAD1 candidate region and mapped homozygous stretches across the MHC shared by affected family members. Haplotype analysis, linkage disequilibrium, and homozygosity mapping indicated that HLA-DQ/DR is the major IGAD1 locus, strongly suggesting the autoimmune pathogenesis of IgAD/CVID. This is supported by the highest excess of allelic sharing at 6p in the genome-wide linkage analysis of 101 IgAD/CVID families using 383 marker loci, by previously reported restrictions of the T cell repertoires in CVID, the presence of autoantibodies, impaired T cell activation, and a dysregulation of a number of genes in the targeted immune system. IgAD/CVID may thus provide a useful model for the study of pathogenesis and novel therapeutic strategies in autoimmune diseases.

Alleles↗
PubMed2004

Common variable immunodeficiency syndrome with right aortic arch: a case report.

BACKGROUND: Common variable immunodeficiency syndrome predominantly affects adults. It is characterized by low production of all the major classes of immunoglobulins. We report a case of common variable immunodeficiency syndrome with right aortic arch. An association of right-sided arch and common variable immunodeficiency syndrome has not been previously reported. CASE PRESENTATION: A 41-year-old female patient presented with a history of recurrent pneumonia, sinusitis, otitis media, diarrhoea, cystitis since childhood. Biochemical and immunocytochemical analysis revealed common variable immunodeficiency syndrome and radiological evaluation confirmed right aortic arch and aberrant left subclavian artery. CONCLUSION: Common variable immunodeficiency syndrome syndrome is a clinical entity that should be kept in mind in patients with recurrent infections of different sites.

Adult↗
PubMed1980

Rectosigmoidal colitis in common variable immunodeficiency disease.

A patient with common variable immunodeficiency disease is described with severe colitis confined to the rectosigmoid region. Inflammation was extensive in the regions involved and exhibited a character that we believe is most unusual. Inflammation was transmural in the regions involved. Macrophages were the major inflammatory cells, and no granulomas or giant cells were seen. Although the disorder seemed distinct from either ulcerative colitis or Crohn's disease, the colitis responded favorably to oral azulfidine, prednisone, and to steroid enemas.

Adolescent↗
PubMed1989

Type I diabetes in an adolescent with common variable immunodeficiency.

A male adolescent with common variable immunodeficiency developed type I diabetes approximately 1 year after the initiation of immunoglobulin therapy. Immunologic evaluation revealed decreased numbers of T cells and an intrinsic B cell defect in immunoglobulin production. Lymphocytes from the patient failed to generate normal suppressor activity. There were no insulin or islet cell antibodies present in the patient's serum or in the commercial immunoglobulin preparations he received. The patient's HLA phenotype included HLA-DR3 and 4, placing him genetically at high risk for type I diabetes.

Adolescent↗
PubMed1990

Cellular abnormalities in common variable immunodeficiency.

In most patients with common variable immunodeficiency (CVI) there is evidence for an intrinsic B cell defect, despite an apparently normal cell phenotype. There are at least five separate subgroups of CVI, based on B cell function. These groups may be variations in severity of a single defect, or distinct molecular defects. At least some patients may have an abnormality in the secretory process of the B cell. The existence of patients whose cells can secrete IgM and IgG in vitro and yet are hypogammaglobulinaemic in vivo implies that the architecture of lymphoid organs or the traffic of lymphoid cells may be involved in the pathogenesis of the disease. The data on T cell defects in CVI indicates that, with sensitive assays, many patients have some abnormality. In the face of a much more defined B cell defect it is not yet possible to assess the overall contribution of the T cell defects to the immune failure.

Agammaglobulinemia↗
PubMed1991

Common variable immunodeficiency: the disorder and treatment.

A case of common variable immunodeficiency, a relatively rare disorder, is presented. This case was complicated by the presence of an anti-IgA antibody in the patient's serum and a history of a possible anaphylactic reaction to a prior intravenous infusion of gamma-globulin. Common variable immunodeficiency is actually a heterogeneous group of demonstrable immunoglobulin deficiencies that have in common low levels of most immunoglobulin isotypes, the inability to form antibodies to antigen, an absence of gross defects in cell-mediated immunity, and the presence of recurrent bacterial infections. The history of immunoglobulin deficiency and its treatment is reviewed. Although the primary therapy for common variable immunodeficiency is gamma-globulin replacement, ancillary measures such as early treatment of infections with antibiotics are also important. Intravenous gamma-globulin replacement therapy is preferred to intramuscular replacement therapy in these patients because intramuscular doses must be limited in volume to minimize local pain and take 2 to 14 days to achieve maximal blood levels, during which time in situ degradation of up to 50% of the administered dose can occur. Five intravenous gamma-globulin preparations are currently available in the United States. The potential adverse effects of intravenous gamma-globulin infusion and the precautions currently taken to ensure safety during administration of this product are discussed.

Adult↗