Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Peripheral blood mononuclear cells (PBMC) from 40 patients with a variety of primary immunodeficiency diseases were examined for concanavalin A (Con A) inducible suppressor activity against proliferative response of autologous and allogeneic PBMC to phytohaemagglutinin (PHA). 45% (12/27) of the patients with common variable immunodeficiency and 86% (6/7) of the patients with selective IgA deficiency demonstrated lack of Con A-induced suppressor activity against proliferative response of autologous/allogeneic PBMC. 2 of 4 patients with X-linked agammaglobulin and both patients, each with Wiskott-Aldrich syndrome and ataxia-telangiectasia, also showed deficient suppressor function. This study demonstrates a deficiency of Con A-inducible suppressor-cell activity in a variety of immunodeficiency diseases. Possible underlying mechanisms for this functional defects are discussed.
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PMID:Deficiency of concanavalin A induced suppressor cell activity in patients with primary immunodeficiency disorders. 622 64

Patients with various immunodeficiency and autoimmune disorders were examined for the proportions of T cells bearing Fc-IgA, Fc-IgG, and Fc-IgM receptors. These disorders included common variable immunodeficiency, systemic lupus erythematosus, ataxia-telangiectasia, selective IgA deficiency, and the Wiskott-Aldrich syndrome. Abnormal proportions (higher or lower than an interval containing 95% of our normal values) of Fc-IgA receptor-bearing T cells (TA) were found in common variable immunodeficiency, systemic lupus erythematous, ataxia-telangiectasia, and selective IgA deficiency. However, the proportion of T cells bearing Fc receptors did not correlate with their functional activity in in vitro immunoglobulin production assays.
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PMID:The proportion of TA, TG, and TM cells in various immunodeficiency and autoimmune disorders. 622 12

An unusual antibody response to the Epstein-Barr virus (EBV) has been noted in patients with ataxia-telangiectasia. Of a group of 16 such patients 8 were found to have antibodies in their serum to the EBV viral capsid antigen (VCA), and 4 of them also had antibodies to the EBV early antigen (EA); antibodies to the nuclear antigen (EBNA), however, were absent in 3 of the 8. The antibody pattern persisted for more than 2 years in the patients available for follow-up study. In comparison, of 24 patients with various other immunodeficiency syndromes 9 were found to have EBV-VCA antibodies in their serum, but none of the 9 had EA antibodies and 3 lacked EBNA antibodies. Two other groups of subjects, all of whom had EBV-VCA and EBNA antibodies in their serum late after an EBV infection, were also studied; 82 had infectious mononucleosis and 55 were healthy and had no such history. EA antibodies were detected in 45 of the first group during the acute phase of the illness but persisted in only 6 of the 68 who were followed up for more than 2 years, and they were detected in only 7 of the second group.All eight lymphoblastoid cell lines established from the peripheral blood of the four patients with ataxia-telangiectasia who are still available for follow-up study express EBV-VCA, whereas most similar cell lines established from normal individuals express only EBNA. In two of these patients cell-mediated immunity, as assessed from lymphocyte transformation induced by mitogens, was markedly decreased but autologous cell-mediated immune regression of EBV-induced transformation of B (bone-marrow-derived)-lymphocytes was normal. The percentage of T (thymus-derived)-helper cells was greatly decreased in two of the three patients in whom it was measured, and the percentage of T-suppressor cells was greatly increased in one of them, but the percentage of total T-lymphocytes was within normal limits in all three.The possible significance of these findings - in particular, the persistence of EA antibodies and the diminished restriction of expression of EA - in the late development of tumours after an EBV infection in patients with ataxia-telangiectasia deserves careful attention. Finally, the apparent correlation between immunoglobulin deficiency and poor or absent EBNA antibody response warrants further study.
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PMID:Epstein-Barr virus antibodies in patients with ataxia-telangiectasia and other immunodeficiency diseases. 627 57

Circulating levels of T-cell subsets and NK cells were determined in 78 patients with primary immunodeficiencies, 35 children with recurrent respiratory infections, and healthy age-matched controls. Normal T cell and natural killer (NK) cell values were observed in individuals with immunoglobulin A (IgA) deficiency and X-linked agammaglobulinemia, while reduced OKT4/OKT8 cell ratios and low levels of 5/9+ T helper cells were found in approximately 60% of patients with common variable immunodeficiency. Infants with severe combined immunodeficiency (SCID) and lymphopenia had virtually no cells expressing T-cell or NK-cell surface antigens, but had normal numbers of monocytes and other types of blood cells. Infants with DiGeorge syndrome, other primary T-cell defects, or SCID with B cells had few or no circulating cells of mature T helper-suppressor phenotypes, but had normal numbers of NK cells (HNK-1+) and NK function. These results support the idea of a common stem cell precursor for T, B, and NK cells, each of which follows a separate pathway of differentiation. Profound alterations were observed in the distribution and function of T-cell subsets in ataxia-telangiectasia patients who were previously shown to have thymic dysplasia. A significant reduction in the frequencies of OKT3+ and OKT4+ cells was observed in children with frequent respiratory infections during infancy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Usefulness of monoclonal antibodies in the diagnosis and monitoring of patients with primary immunodeficiencies: combined experience in three clinical immunology centers. 638 70

Fifty children with IgA deficiency were folllowed for 1 to 4 years from 1975 to 1978. Thirty-five had complete deficiency of serum IgA (less than 2.5 IU/ml) and 15 partial deficiency (serum IgA below the 10th centile for age). Patients with another associated immunodeficiency, such as ataxia-telangiectasia, were not included. Most children with complete deficiency of IgA had recurrent respiratory and/or gastrointestinal infections, about half with onset in the first year of life, while partial deficiency of IgA has probably little if any importance for anti-infectious immunity but is important in the pathogenesis of atopy. Atopic diseases were frequent in both groups. Chromosomal abnormalities were found in 2 patients: trisomy 21 in one and in the other a ring chromosome 18. No important defects in cellular immunity were detected but some isolated, borderline abnormalities were often present.
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PMID:Selective IgA deficiency: clinical and immunological evaluation of 50 pediatric patients. 644 75

Five patients with primary immunodeficiency and cancer are presented. Two children with ataxia-telangiectasia developed acute lymphoblastic leukemia and malignant lymphoma of B-like origin with chromosome damage and unusual prevalence of antibodies to E.B.V. early antigen. A bone sarcoma occurred in a patient with common variable hypogammaglobulinemia. At least two infants who died with severe combined immunodeficiency had at autopsy congenital myelomonocytic leukemia and malignant lymphoma. These cases indicate the high risk for development of cancer in patients with primary abnormalities of the immune system and suggest the heterogeneity and complexity of pathogenic mechanisms.
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PMID:[Primary immunologic deficiencies and cancer. 5 anatomo-clinical case reports]. 657 32

This paper referred to primary immunodeficiency diseases (PID)-malignancy association in autopsy cases in Japan. The occurrence of malignant neoplasms almost centered upon ataxia-telangiectasia among PID in Japan. It seems to be due to extremely shorter life span in Japanese patients with PID except for in those with ataxia-telangiectasia, compared with that in European and American patients. Most of the malignant neoplasms seen in Japanese patients with PID were epithelial and were seen mostly in older patients, while lymphoreticular tumors were rare. Gastric cancer was the most frequent of the epithelial tumors.
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PMID:Immunodeficiency-malignancy association at autopsy in Japan. 665 Jan 70

A histologic review was undertaken of 35 lymphoreticular disorders that developed in primary immuno-deficiency patients from the Immunodeficiency Cancer Registry. Twenty-one (60%) of the lesions were non-Hodgkin's lymphomas: these included eight B-immunoblastic sarcomas. Eight (23%) of the lesions were Hodgkin's disease, with a high frequency of lymphocytic depletion type in an unusually young age group. Three lesions (8.5%) represented abnormal proliferative processes, which could not be definitely categorized as either benign or malignant. There were only two acute lymphoblastic leukemias (6%). Differences were found between lymphomas arising in Wiskott-Aldrich syndrome and those occurring in ataxia-telangiectasia; this suggests that different pathogenetic mechanisms might operate in their development. The lymphomas in Wiskott-Aldrich syndrome were all of non-Hodgkin's type, predominantly B-immunoblastic sarcomas, and presented as localized extranodal infiltrates. The lymphomas in ataxia-telangiectasia were either Hodgkin's disease, mostly of lymphocytic depletion type, or non-Hodgkin's lymphomas of the histologic subtypes associated with 14q translocations.
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PMID:Lymphoreticular disorders in primary immunodeficiencies: new findings based on an up-to-date histologic classification of 35 cases. 696 49

Common variable immunodeficiency and ataxia-telangiectasia with immunodeficiency are both well recognized syndromes which occur in children. The aetiological factors responsible for both these conditions have yet to be defined clearly. The clinical and laboratory features in two siblings, one with common variable immunodeficiency and the other with ataxia-telangiectasia, are presented. This is the first report of these two entities occurring in siblings.
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PMID:The occurrence of ataxia-telangiectasia and common variable immunodeficiency in siblings: case report. 751 39

We tested for infection with hepatitis C virus (HCV) in 58 patients affected by humoral immunodeficiencies: 43 common variable immunodeficiency (CVI), two hyper IgM syndrome (HIM), two IgG subclass deficiency, four ataxia-telangiectasia (AT), and seven X-linked agammaglobulinaemia (XLA). While the assessment of serum specific HCV antibodies in some of these patients was not informative because of the impairment in specific antibody production, the reverse transcriptase polymerase chain reaction (RT-PCR) assay used to detect serum HCV RNA was a useful method for diagnosing infection. We found that 38% of late onset hypogammaglobulinaemic patients (CVI, HIM or IgG subclass deficiency) had evidence of HCV infection. HCV infection was not detectable in patients with XLA or AT. The majority of our patients had persistent viraemia, and those who underwent liver biopsy showed histological findings of chronic hepatitis. Moreover, we could demonstrate in vitro that eight of 18 HCV-infected patients were actively producing anti-HCV antibodies, despite their impaired antibody production. The high rate of HCV infection in hypogammaglobulinaemic patients could be related to several nosocomial routes of transmission, including intravenous immune globulin administration. Despite the persistent viremia only two patients had cirrhosis and none had hepatocarcinoma.
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PMID:HCV infection in patients with primary defects of immunoglobulin production. 755 76


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