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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The morphology of lymphatic tissues in 43 autopsy cases of children with inherited immunodeficiency states were analysed. Among the more common diseases, such as Di-George-syndrome, CID-patients, congenital agammaglobulinemia Bruton, CVID, selective IG-A deficiency, Wiskott-Aldrich-syndrome, tissue sections of very rare conditions associated with immunodeficiency, e.g. fetopathia diabetica and leprechaunismus, were investigated by routine and immunohistochemical stainings. Clinical history and laboratory data, augmented by the characteristic pathomorphology of lymphatic tissue sections, will establish or at least suggest a definite diagnosis. Since true thymic dysplasia is very rare (or even non-existent) in the human, this term should be abandoned. Severe thymic tissue alterations in SCID-patients, occur secondary to enzyme defects in lymphatic cells. If patients are successfully treated by bone marrow transplantation, the thymus will subsequently develop into a functionally normal organ.
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PMID:[Morphological changes in the lymphatic system of children with hereditary immunologic deficiency syndromes]. 128 43

Common variable immunodeficiency (CVID) patients are unable to produce specific immunoglobulins after antigen contact in vivo. The aim of this study was to investigate whether in some cases of CVID a decreased de novo synthesis of IL-2 might be the cause of immunodeficiency and whether this deficiency can be corrected by IL-2 supplementation in vitro. Mononuclear cells from 17 CVID patients and from 10 healthy controls were cultured with monoclonal anti-CD3 antibody OKT3, pokeweed mitogen (PWM) or tetanus toxoid (TT) to stimulate IL-2 synthesis. In parallel, in vitro IgG and IgM synthesis was stimulated with Staphylococcus aureus Cowan I (SAC), PWM or TT in the presence or absence of IL-2. While lymphocytes of 11 out of 17 patients produced low to normal amounts of IL-2 upon stimulation with anti-CD3, only three patients showed low IL-2 production in response to PWM and five in response to TT. Regarding immunoglobulin synthesis in vitro, five patients completely failed to produce IgM or IgG upon stimulation with PWM, SAC or TT irrespective of the addition of IL-2. By contrast, four patients did not show any defect in vitro and synthesized normal amounts of IgM and IgG with any of the three stimuli. Finally, eight patients could be reconstituted for PWM-, SAC- and TT-induced IgM and/or IgG synthesis in vitro, by adding IL-2 to the culture system. This enhancing effect of IL-2 could be blocked by adding anti-IL-2 receptor antibodies to the cultures. Our findings indicate that a defective IL-2 synthesis after antigen stimulation may be one reason for the impaired immunoglobulin production in some cases of CVID.
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PMID:Possible role of IL-2 deficiency for hypogammaglobulinaemia in patients with common variable immunodeficiency. 163 64

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.
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PMID:Ig H chain variable and C region genes in common variable immunodeficiency. Characterization of two new deletion haplotypes. 165 93

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.
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PMID:Common variable immunodeficiency in association with Turner's syndrome. 196 51

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.
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PMID:Common variable immunodeficiency: the disorder and treatment. 198 61

A 19-year-old male with pernicious anemia and hypogammaglobulinemia (common variable immunodeficiency: CVID) is reported in comparison with classical pernicious anemia. This case was characterized by an earlier onset of anemia, the absence of autoantibodies to intrinsic factor or gastric parietal cells and involvement of the pyloric antrum as well as the gastric corpus. It is suggested that dysregulation of cellular immunity produces the autoimmune lesion in the gastric mucosa, including the pyloric antrum, in a patient with CVID, and that some of such cases develop pernicious anemia.
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PMID:Pernicious anemia in a patient with hypogammaglobulinemia. 223 5

Common variable immunodeficiency (CVI) or hypogammaglobulinemia is a heterogeneous primary immunodeficiency disease in which B cells produce little or no antibody. Since the disease is relatively rare and the spectrum of associated illnesses is broad, patients are given care by a variety of specialists. Thus it has been difficult to determine the incidence of specific complications. In these studies we analyzed 103 consecutively referred CVI patients of age range 3-71 years (average, 29 years) who were followed for a period of 1-13 years (total of 750 patient years). The average serum IgG was 174.4 mg/dl for untreated patients and 301 mg/dl for patients treated with intramuscular immunoglobulin at the time of the first visit. The average IgA was 14.5, and the average IgM was 80.7, with no difference between or after immunoglobulin treatment. About one-half of the patients had T-cell dysfunction, but lymphocyte stimulation responses were inversely related to age, which implies worsened T-cell immunity with age. Serum IgG and IgA levels were found to be statistically associated (P = 0.008), and serum IgG was related to lymphocyte stimulation with concanavalin A (P = 0.01). By 1986, 79 patients were alive, 23 had died, and 1 could not be located. Recurrent bacterial illnesses were common to all patients, and 22% had developed chronic lung disease, 22% autoimmune disease, 15% cancer, 13% hepatitis, and 9% malabsorption. Autoimmune disease was more common in females, and cancer was more likely to develop in the fifth and sixth decades. In 11% of the group, other family members were found to be immunodeficient (hypogammaglobulinemic or IgA deficient). Nine patients died of respiratory insufficiency (with or without other complications), and seven patients died of cancer. These data provide valuable information about the immunologic abnormalities and the spectrum and frequency of illnesses associated with hypogammaglobulinemia.
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PMID:Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. 278 95

Common Variable Immunodeficiency is a rare primary immunodeficiency presenting usually in young adults with repeated sinopulmonary infections as a result of profound hypogammaglobulinemia. A clinical report of the first documented patient in this region is presented along with a brief review of the recent advances made especially in understanding pathogenesis and management of patients with this disorder.
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PMID:Common variable immunodeficiency--a case report and review. 304 64

Common variable hypogammaglobulinemia (immunodeficiency), a disorder characterized by late-onset immunoglobulin deficiency and lack of humoral immunity, has a variable association with bronchiectasis, cholelithiasis, nodular lymphoid hyperplasia, gastrointestinal neoplasia, megaloblastic anemia, and malabsorption. The patient described in this report had all of the above except neoplasia. In addition, he had calcium oxalate renal stones probably secondary to his malabsorption. The first case demonstrating the beneficial effect of home hyperalimentation in patients with severe malabsorption refractory to other treatments is described. Home hyperalimentation overnight allows the patient freedom for daily activities while also being more cost-effective than in-hospital parenteral nutrition.
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PMID:Home hyperalimentation for common variable hypogammaglobulinemia with malabsorption secondary to intestinal nodular lymphoid hyperplasia. 311 40

Five cases (3 men, 2 women) of late-onset variable immunodeficiency syndrome (CVID), characterized by similar clinical and immunological findings as well as histological demonstration of chronic granulomatous infection, are reported. All patients had frequent attacks of respiratory infections with recurrent bronchitis and pneumonia. In addition to predominating basally localized streaky-nodular lung changes all patients had hepatosplenomegaly and granulomatous infections of other organs. Immunologically, marked hypogammaglobulinaemia of all Ig classes, lymphopenia, and absence of terminal B-cell maturation were predominant. In-vitro tests under pokeweed-mitogen failed to demonstrate terminal plasma-cell differentiation of B-lymphocytes and thus Ig synthesis. Without pokeweed-mitogen there were largely nonsecretory B-blasts with abnormal granulated cytoplasmic Ig formation. Skin testing with Multitest application revealed almost complete anergy, both in the Arthus (24 h) and the late reactions (48 and 72 h). Nonetheless, T-cell reaction in-vitro was much less affected than B-cell function. "Natural killing" and antibody-dependent cytotoxicity were normal or slightly increased.
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PMID:[Acquired immunodeficiency syndrome with chronic granulomatous inflammation. Clinically definable special form of the variable immunodeficiency syndrome]. 348 49


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