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Results for “Common Variable Immunodeficiency”

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PubMed1985

Intravenous immune globulin therapy. Treatment of a patient with severe immunodeficiency, chronic malabsorption, and fulminant septicemia.

Biweekly 200 mg/kg infusions of immune globulin (Gamimune) were given to a 46-year-old woman with severe common variable immunodeficiency, bronchiectasis, and chronic diarrhea with malabsorption. Failure to achieve therapeutically effective serum IgG concentrations in the face of fulminant sepsis was accompanied by a shortened serum IgG half-life of 10.6 days. Currently recommended doses of 200 mg/kg may prove inadequate in very ill patients with sepsis and malabsorption.

Agammaglobulinemia↗

PubMed1998

Antibody deficiency in Wolf-Hirschhorn syndrome.

We identified antibody deficiencies in 9 of 13 infection-prone children with Wolf-Hirschhorn syndrome (4p-monosomy). Eight of the immunodeficient children were identified by a questionnaire sent to 190 families with an affected child. Two of the children had common variable immunodeficiency, one had IgA and IgG2 subclass deficiency, three had IgA deficiency, and three had impaired polysaccharide responsiveness. T-cell immunity was normal. The association of antibody defects with Wolf-Hirschhorn syndrome suggests a regulatory gene within the deleted chromosome region that affects the B cell system.

Abnormalities, Multiple↗

PubMed2001

Terminal defects of B lymphocyte differentiation.

In humans several abnormalities can occur during terminal B cell differentiation, leading to primary humoral immunodeficiencies. A recent study provided evidence of a qualitative defect of the affinity antibody maturation in some patients affected with common variable immunodeficiency syndrome, the molecular basis of which remains unknown. Several genetic defects in class switch recombination leading to a hyper-IgM syndrome have recently been delineated. Besides the well-known role of CD40-CD40 ligand interaction, they definitively demonstrate the requirement of CD40-mediated nuclear factor kappa B activation and the essential role of a newly described molecule, the activation-induced cytidine deaminase, in B cell terminal differentiation.

B-Lymphocytes↗

PubMed1990

[Phenotypic changes in the mononuclear cells of patients with primary immunodeficiencies].

The study of differentiation antigens of circulating mononuclear cells in 70 patients with primary immunodeficiency (PID) using monoclonal antibodies allowed us to define phenotypic profiles that are characteristic of the different described syndromes. In common variable immunodeficiency we found percentages of lymphocytes within normal ranges, and an altered CD4/CD8 ratio. In sex-linked agammaglobulinemia, absence of B lymphocytes with normal distribution of regulatory populations (CD4/CD8) were found. These results allow us to distinguish two clinically and infectologically similar conditions. In selective IgA deficiency, distribution of lymphocytic populations was normal. In immunodeficiency with hyper IgM, considered up to date as an abnormal maturation of B lymphocytes, we observed a deficiency in cellular immune response, and a phenotypic profile characterized by: decreased number of CD3 cells, inverted CD4/CD8 ratio, and increased CD38 population; this profile being similar to the one that we found in predominantly cellular immunodeficiency. In predominantly cell-mediated immunodeficiency and in those immunodeficiencies associated to other defects (such as: hyper IgE syndrome, Di George syndrome), the most important finding was a significative increase in CD38 population. Although it's not possible to consider on this basis that there is a defect at the thymic level of T-cells maturation, the high levels of circulating CD38 cells were a clear indication of altered cellular immune response in our series of patients. Patients with predominantly cell-mediated immunodeficiency showed the lowest levels of CD4 cells and the corresponding inversion of CD4/CD8 ratio. In Di George syndrome we found a markedly diminished CD8 population that differentiates this entity from the rest of the studied syndromes. In chronic mucocutaneous candidosis distribution of lymphocytic populations was normal, but a significative increase in the percentages of CD11b+ cells was observed. In patients with antibodies deficiency that received substitutive treatment with gammaglobulin we found no variations in lymphocytic populations distribution. In the group of patients with altered cellular immunity treated with thymic hormones, observed phenotypic changes (increase in T-cells population, trend to normalization in CD4/CD8 ratio, and decrease in CD38 population) were transient, and lasted only during the treatment period. We considered that describing these phenotypic profiles is a useful diagnosis tool when evaluating patients with PID, since these profiles are characteristic and very stable.

Adult↗

PubMed2001

Infections in patients with immunodeficiency with thymoma (Good syndrome). Report of 5 cases and review of the literature.

Immunodeficiency with thymoma (Good syndrome, GS) is a rare, adult-onset condition that is characterized by thymoma, hypogammaglobulinemia, and low numbers of peripheral B cells. CD4+ T lymphopenia and an inverted CD4:CD8+ T-cell ratio may be present. Here we report 5 patients with GS and infectious complications who were seen at 3 institutions between 1983 and 1999. Three patients had recurrent sinopulmonary infections, 3 had severe cytomegalovirus (CMV) disease, and 1 had Pneumocystis carinii pneumonia. Review of the literature identified 46 other reports of infections in GS patients. The infections reported in all 51 patients included recurrent sinopulmonary infection (19 cases with documented respiratory pathogens), generally with encapsulated bacteria, most often Haemophilus influenzae (11 cases); CMV disease (5 cases); bacteremia (7 cases); oral or esophageal candidiasis (6 cases); persistent mucocutaneous candidiasis (5 cases); chronic diarrhea (5 cases with documented stool pathogens); urinary tract infections (4 cases); P. carinii pneumonia (3 cases); tuberculosis (2 cases); Kaposi sarcoma (1 case); disseminated varicella (1 case); candidemia (1 case); wound infection with Clostridium perfringens (1 case); Mycoplasma arthritis (1 case); and other infections. Patients with GS present with a spectrum of sinopulmonary infections and pathogens similar to common variable immunodeficiency (CVID). Compared with patients with CVID, opportunistic infections, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis, appear to be more common in patients with GS, and patients with GS may have a worse prognosis. GS should be ruled out in patients with thymoma or CVID who develop severe, especially opportunistic, infections. Treatment with intravenous immune globulin is recommended for all patients with GS.

Agammaglobulinemia↗

PubMed1988

Comparative analysis of lymphocyte phenotypes between carriers of human immunodeficiency virus (HIV) and adult patients with primary immunodeficiency using two-color immunofluorescence flow cytometry.

A variety of phenotypic abnormalities of peripheral blood lymphocytes from 8 HIV-carriers (HIVC), 6 patients with common variable immunodeficiency disease (CVID), and 13 patients with selective immunoglobulin deficiency (SIgD) were compared using two-color flow cytometry. There was a close resemblance in phenotypic abnormalities between HIVC and the patients with CVID; i.e., increases in CD8+CD11-, Leu7+CD16- and CD3+DR+ cells, and decreases in CD4+Leu8+, CD4+Leu8-, Leu7+CD16+ and Leu7-CD16+ cells. The increase in CD3+DR+ cells was due to an increase in CD8+DR+ cells. The CD4/CD8 ratio was inverted in both groups. A strong correlation coefficient (CC) was found only between the CD4/CD8 ratio and CD4+Leu8+ cells in HIVC, while CC was also high between the CD4/CD8 ratio and CD8+CD11- cells in CVID. The phenotypic abnormalities of the patients with SIgD were various and no significant difference was found against the control, except for an increase in CD4+Leu8+ cells and a decrease in CD4+Leu8- cells, which suggests heterogeneity of immunological deficits in this group. In severe immunodeficiency, ineffective killer cells appeared to be induced as a result of an adaptive change involved in recurrent or persistent viral infections, and Leu8 molecule may be concerned in the susceptibility of CD4+ cells to HIV.

Acquired Immunodeficiency Syndrome↗

PubMed2004

Acute mastoiditis in infancy: the Soroka experience: 1990-2000.

UNLABELLED: Acute mastoiditis (AM) is an uncommon but serious complication of acute otitis media (AOM). In the pre-antibiotic era, AM was seen more frequently than it is today, but it was rare in infants. However, in the last two decades an increase in the incidence of AM in infancy has been reported in the literature. During the years 1990-2002, we treated 113 patients with 128 episodes of AM; of them, 24 were infants (median age 6 months; 18 males) who suffered from 26 episodes of AM. Twenty developed AM as a complication of their first episode of AOM. One of the four infants with a prior history of AOM suffered from common variable immunodeficiency. A significant increase in the incidence of AM in infants was recorded during the study period (P = 0.01). The most common presenting clinical signs were post-auricular swelling and fever >38 degrees C (77% and 77%, respectively, of all patients). Seventeen episodes of AM were not treated with prior antibiotics. Tympanocentesis was performed in all episodes of AM. Middle ear fluid culture was positive in 17 (65%) of the 26 AM episodes. The most common pathogens cultured were Streptococcus pneumoniae (10 infants, 58% of all pathogens, 3/10 intermediately susceptible to penicillin) followed by Streptococcus pyogenes (4, 23%), non-typable H. influenzae (2, 12%) and S. aureus (1, 6%). Temporal bone CT showed bone destruction in 14 patients; 3 infants had subperiosteal abscesses and 3 lateral sinus thrombosis. Ten infants underwent mastoid surgery due to non-resolution of symptoms and signs with antibiotic therapy. Eight underwent cortical mastoidectomy with two patients undergoing ventilation tube introduction only. The remainder of the infants healed with conservative treatment. CONCLUSIONS: (1) A significant increase in the incidence of AM in infants was recorded over the last decade, though a specific reason for this trend remains uncertain; (2) Most of the cases of AM followed the infant's initial AOM episode, and most of the infants had not received prior antibiotic therapy; (3) The clinical signs and symptoms of AM were more severe in infants than in older patients; (4) While S. pneumonia was the most common pathogen isolated in middle ear fluid cultures, the involvement of S. pyogenes in AM was higher than that reported in AOM.

Abscess↗

PubMed1991

Small intestinal lesion resembling graft-vs-host disease. A case report in immunodeficiency and review of the literature.

We report graft-vs-host disease-like histology in a small intestinal biopsy specimen that was obtained from a patient with common variable immunodeficiency and related T-cell defect. We include findings from immunohistochemical studies and follow-up information. Review of the literature yielded only a small number of histologically documented cases of this lesion without previous bone marrow transplantation. Awareness of this clinicopathologic entity is important in the interpretation of gastrointestinal biopsy specimens.

Biopsy↗

PubMed1989

[Lymphocytic, phenotypic and functional studies in primary immunodeficiencies].

In this report we present the leukocyte phenotypic analysis of 64 cases of primary immune deficiencies (PID). Functional studies related to lymphocyte activation (CD25 (Tac) antigen expression and response to exogenous IL2) as well as immunoregulatory pathways (spontaneous suppressor activities and suppression by soluble factors) were also considered taking immunodeficiency with hyper-IgM (IDHM) as model. The study of mononuclear cell populations with monoclonal antibodies allowed the characterization of defined phenotypes. In common variable immunodeficiency, B cells were present in normal percentages. In sex-linked agammaglobulinemia there was a lack of B lymphocytes and normal distribution of regulatory populations. These results point out the difference between these two entities despite their clinical and infective similarities. Excess of cells expressing CD38 antigen (NV: 4 +/- 2) were found in: predominantly cell mediated immunodeficiency (PCMI): 38 +/- 20; ataxia telangiectasia: 25 +/- 8, hyper-IgE syndrome: 24 +/- 13; Di George syndrome (DGS): 24 +/- 9, chronic mucocutaneous candidiasis: 15 +/- 7. The increased expression of this antigen was correlated with the presence of compromised cellular immunity. The DGS presented the lowest level of CD8 cells (6 +/- 5; NV: 21 +/- 7). In two patients with IDHM, the phenotypic profile was similar to that found in PCMI (low CD3 cells, low CD4/CD8 ratio and elevated CD38 cells). The depressed proliferative response to PHA demonstrates a cellular immune defect. In both patients we found a low expression of CD25 antigen in stimulated cells. Moreover, the addition of exogenous IL2 decreased the proliferative response to PHA in a dose-dependent fashion, suggesting that the cells expressing the CD25 antigen have suppressor capacity.(ABSTRACT TRUNCATED AT 250 WORDS)

Humans↗

PubMed1992

The role of the immunologist in sinus disease.

The clinical immunologist is playing an increasingly important role in the evaluation and management of sinus disease. Although most patients with sinus disease are not immunodeficient, a significant proportion of patients with chronic sinusitis unresponsive to medical and/or surgical therapy may have an immunodeficiency. Most immunodeficient patients for whom sinusitis is a major clinical problem tend to be those with humoral immunodeficiency diseases. The role of immunoglobulin replacement therapy is well established for patients with global immunoglobulin and antibody deficiencies (e.g., X-linked agammaglobulinemia and common variable immunodeficiency) and may be helpful in controlling refractory sinusitis in patients with more selective immunoglobulin deficiencies (e.g., IgG subclass deficiency and selective antibody deficiencies), but efficacy in these conditions remains to be established by controlled studies. Many immunodeficient patients have a history of repeated sinus surgery before the recognition of their immune defect. Even in immunodeficient patients treated with antibiotics and immunoglobulin replacement therapy, functional endoscopic sinus surgery is successful in only half of the patients.

Agammaglobulinemia↗

PubMed1984

Study of activated T cells in man. I. Discrepancy between Tac antigen and DR Antigen on T cells in patients with primary immunodeficiency.

DR and Tac antigens are present on T cells activated in vitro with mitogens and antigens but lacking on resting T cells. Freshly prepared peripheral blood T cells from patients with common variable immunodeficiency ( CVI ) and isolated IgA deficiency ( IAD ) were examined for the presence of DR and Tac antigens, using monoclonal antibodies and a fluorescence-activated cell sorter. Both Tac+ and DR+ T cells were significantly (P less than 0.05) increased in the patient group when compared with age- and sex-matched controls; however, a discrepancy was observed in the proportions of Tac+ T cells and DR+ T cells. This study demonstrates that, in certain patients with CVI and IAD , T cells are activated in vivo, and Tac and DR antigens could be expressed during different stages of T-cell activation.

Adolescent↗

PubMed1998

Unusual dural and skull-based mesenchymal neoplasms: a report of four cases.

Dural and skull-base mesenchymal neoplasms other than meningiomas are rare. We report four such tumors, some of which are uncommon even in nonintracranial sites, in three adults and one child. The adult tumors consisted of a synovial sarcoma of the third ventricle region in a 19-year-old woman, a leiomyoma of the suprasellar region in a 57-year-old woman, and an Epstein-Barr virus (EBV)-associated smooth muscle tumor of the cavernous sinus in a 35-year-old woman with acquired immunodeficiency syndrome (AIDS). The pediatric tumor was an EBV-associated leiomyosarcoma of the left dural transverse sinus in a 14-year-old girl with common variable immunodeficiency syndrome. All tumors were thought to be primary in their dural or skull-base locations. The two EBV-associated smooth muscle tumors in immunocompromised patients expand the locations for EBV-associated smooth muscle tumors to dural and skull-base sites, the synovial sarcoma is unique to the intracranial space, and the sellar leiomyoma represents the third reported sellar smooth muscle tumor.

Acquired Immunodeficiency Syndrome↗

PubMed2000

Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression.

X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency in which affected boys show abnormal responses to Epstein-Barr virus infection. The gene defective in XLP has been identified and designated SH2D1A and encodes a protein termed SLAM-associated protein (SAP). Mutation analysis in individuals with typical XLP presentations and family histories has only detected abnormalities in approximately 60% of patients. Thus, genetic analysis alone cannot confirm a diagnosis of XLP We have developed a SAP expression assay that can be used as a diagnostic indicator of XLP We show that SAP is constitutively expressed in normal individuals, in patients with severe sepsis and in patients with other primary immunodeficiencies. In six XLP patients, four with classical and two with atypical presentations, SAP expression was absent. In the latter two, who were previously assigned as having common variable immunodeficiency (CVID), the diagnosis of XLP was initially made using the protein expression assay. In two further patients in whom no mutation could be detected by genetic analysis, lack of SAP expression strongly suggests that these individuals have XLP. We therefore suggest that XLP should be suspected in certain boys previously diagnosed as having CVID and recommend that patients are investigated both by genetic analysis of SH2D1A and by expression of SAP protein.

Agammaglobulinemia↗

PubMed1987

Primary hypogammaglobulinaemia and arthritis.

Arthritis may be the first clinical manifestation of primary hypogammaglobulinaemia. In 16 years of 281 patients who had immunodeficiency, 30 had arthritis at presentation. It was more common in Bruton's disease (15 (22%) of 69 patients) than in other forms of immunodeficiency (15 (7%) of 212 patients). Non-septic arthritis was more prevalent than septic arthritis, particularly monoarticular arthritis in Bruton's disease and pauciarticular disease in common variable immunodeficiency. Boys in whom a diagnosis of Bruton's disease was delayed were likely to develop recurrent infections complicated by arthritis. The measurement of serum immunoglobulin concentrations readily differentiates immunodeficiency from conditions such as Still's disease and dictates subsequent management.

Agammaglobulinemia↗

PubMed1975

Evidence for complement activation by the alternate pathway in the arthritis of hypogammaglobulinemic patients.

The chronic, rheumatoid synovitis in four patients (two children and two adults) with immunodeficiency was studied by means of immunopathological examination of synovial tissues and fluids. Their immunodeficiencies were extensively studied, with various tests for humoral and cell-mediated immunity. The two children were boys with Bruton's disease. One adult, female, had common variable immunodeficiency. One adult male had severe hypogammaglobulinemia. All patients had isolated deposits of complement component C3 in their synovial membranes, usually without traces of immunoglobulins. Depressed levels of complement component C3 were found in the joint fluid, in contrast to high levels in the corresponding serum in one patient. Components of the alternate pathway, properdin and C3A, were found in the tissues, but not components of the classic pathway, C1q and C4. The findings suggest that chronic, rheumatoid arthritis in hypogammaglobulinemic patients may be related to activation of C3 by the alternate pathway.

Agammaglobulinemia↗

PubMed1997

Gastrointestinal manifestations of primary immunodeficiency disorders.

Because the gastrointestinal tract is the largest lymphoid organ in the body, it is not surprising that patients with immunodeficiency would present with pathological conditions in the intestine. Several studies have documented a high prevalence of inflammatory, malignant, and infectious gastrointestinal (GI) disorders in patients with common variable immunodeficiency or immunoglobulin A (IgA) deficiency. Interestingly, it has become increasingly apparent that antibody deficiency alone does not result in GI disease. Rather, defects in cellular immunity appear to predispose to a sprue-like disorder, pernicious anemia, giardiasis, nodular lymphoid hyperplasia, and even inflammatory bowel disease. In patients with unusual inflammatory GI disorders, measurement of serum immunoglobulins should be obtained.

Gastrointestinal Diseases↗

PubMed2005

Distribution of primary immunodeficiency disorders diagnosed in the Children's Medical Center in Iran.

Primary immunodeficiency disorders include a variety of diseases that render patients more susceptible to infections. To determine the percentage of different primary immunodeficiency disorders diagnosed in the Children's Medical Center Hospital affiliated to Tehran University of Medical Sciences in Iran, we retrospectively reviewed the charts of the patients being referred to our hospital for immunologic evaluation of recurrent infections during a 20 year period. Among these patients, antibody deficiencies were the most frequent ones and were found in 52.6% of patients (n = 130). T-cell disorders, phagocytic disorders and complement deficiencies were found to be present in 24.69% (n = 61). 22.2% (n = 55) and 0.4% (n = 1) respectively. On the whole, common variable immunodeficiency was the most frequent disorder (n = 65), followed by ataxia telangiectasia (n = 39), X-linked agammaglobulinemia (n = 33), chronic granulomatous disease (n = 29) and selective IgA deficiency (n = 20). This study reveals that antibody deficiencies are the most common type of disorders as shown in other studies. A comparative study shows some differences between our results and other registries. This article also indicates that immunodeficiency disorders should be considered in patients with recurrent infections.

Adolescent↗

PubMed1992

Immunogenicity of Haemophilus influenzae type b capsular polysaccharide and its tetanus toxoid conjugate in patients with recurrent infections or humoral immunodeficiency.

The antibody response to the capsular polysaccharide of Haemophilus influenzae type b was evaluated after vaccination with the capsular polysaccharide or its tetanus toxoid conjugate in 41 randomized patients with recurrent infections, IgA deficiency, common variable immunodeficiency, or the Wiskott-Aldrich syndrome. Serum antibodies were measured using a Farr assay for total antibodies and an enzyme-linked immunosorbent assay for antibodies of the three main immunoglobulin classes and of each IgG subclass. Antibody levels reached concentrations generally considered as protective in the majority of cases, the best response being observed after two injections of the conjugate vaccine with a 1-month interval. Vaccination with the conjugate therefore seems to be promising for the prevention of Haemophilus influenzae type b infections in such patients.

Adult↗