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

Lymphocytes from patients with primary immunodeficiency were tested histochemically for ecto 5'-nucleotidase (5'N) and alpha-naphthyl (non-specific) esterase. More than half the patients with 'common variable' hypogammaglobulinaemia, all those with X-linked hypogammaglobulinaemia and some of those with selective IgA deficiency had a very low percentage of lymphocytes staining for 5'N as compared to controls. A lack of B cells probably explains the finding in X-linked hypogammaglobulinaemia, but does not fully explain the results in the other groups. Most patients with 'common variable' hypogammaglobulinaemia had a very low percentage of lymphocytes with granular staining for alpha-naphthyl (non-specific) esterase in contrast to normal numbers in those with X-linked hypogammaglobulinaemia and most of those with selective IgA deficiency. Granules containing non-specific esterase are characteristically found in 'mature' T lymphocytes. The enzyme abnormalities in the T and B cells of 'common variable' hypogammaglobulinaemic patients could be explained by 'immature' cell types.
 ...
PMID:Histochemical studies for 5'-nucleotidase and alpha-naphthyl (non-specific) esterase in lymphocytes from patients with primary immunoglobulin deficiencies. 46 56

The clinical and immunologic features of 11 patients with transient hypogammaglobulinemia of infancy are reported and compared with those of the 16 patients previously reported. Seven were re-evaluated three to ten years after infancy. Two groups were identified: six who were found by screening relatives of patients with other types of immunodeficiency and five whose sera were sent because the patients were having frequent or unusual infections. Those in the first group had no significant health problems during early infancy or childhood. In the second group recurrent infection was a problem during early infancy but not in later years; the latter patients also frequently had other health problems. Serum immunoglobulin concentrations were entirely normal at the last evaluation in five of the six THI patients with immunodeficient relatives. In the second group, the concentrations of one or more immunoglobulin classes, although greatly increased, were still below the normal range. All 11 patients were found to be capable of synthesizing antibodies to human type A and B erythrocytes and to diphtheria and tetanus toxoids, usually by 6 to 11 months of age, and well before immunoglobulin concentrations became normal. Lymphocyte studies in vitro showed no abnormalities in the percentages of cells in the different subpopulations or in their responses to the mitogens. None of the patients was given immune serum globulin replacement therapy and none experienced serious infections during their period of follow-up. The finding of only 11 cases of THI among over 10,000 patients whose sera were sent for immunoglobulin studies over a 12-year period suggests that this is not a common entity.
 ...
PMID:Transient hypogammaglobulinemia of infancy: review of the literature, clinical and immunologic features of 11 new cases, and long-term follow-up. 63 73

Chronic lymphocytic leukemia (CLL) is the commonest type of leukemia seen in Western countries. It affects an older group of individuals than most other varieties of leukemia, and men more often than women, in a ratio of 2:1. The incidence of CLL is significantly increased in some families. In most instances, CLL is due to the overgrowth or accumulation of immunoglobulin producing B lymphocytes. Hypogammaglobulinemia is a common feature, and anomalous immunoglobulin components occur in 3 to 5% of patients. The early symptoms and signs of CLL include fatigue, reduced exercise tolerance, enlarged lymph nodes, and splenomegaly. Fever, weight loss, and impairment of bone marrow function, with anemia, bleeding and susceptibility to infection are characteristic of severe or advanced disease. In the great majority of patients, the disease can be controlled for 6 to 10 or more years with simple regimens using chlorambucil or cyclophosphamide, often in combination with prednisone. Radiotherapy and splenectomy are useful in some instances. The terminal phase of the disease is characterized by exacerbation or increasing severity of the leukemia and the development of opportunistic infections associated with immunodeficiency.
 ...
PMID:Chronic lymphocytic leukemia. 68 76

A 17-year-old boy with immunodeficiency, elevated levels of IgM,and neutropenia developed distal esophageal ulcers and stricture. Although his lower esophageal sphincter pressure was decreased, he had normal acid reflux test results, normal findings from acid clearing studies, and absence of diffuse esophagitis at esophagoscopy. Neutropenia and hypogammaglobulinemia are postulated as pathogenic factors in his esophageal ulcers.
 ...
PMID:Esophageal ulcers in immunodeficiency with elevated levels of IgM and neutropenia. 85 39

The main features of Dubowiz syndrome are bird headed dwarfism and a typical facial configuration. Including two own patients 13 cases among 8 siblings are known in the literature. Two own cases of Dubowitz syndrome in two sisters are described, one of them with hypogammaglobulinemia and neuroblastoma, the other one with complete Ig A deficiency and malignant lymphoma. A propable relationship between immundeficiency and malignancies is discussed. Until 1973 151 malignant tumors with primary immundeficiency had been registrated. This paper is the first description of two cases of Dubowitz syndrome with immunodeficiency and malignant neoplasms.
 ...
PMID:[Dubowitz syndrome with immunodeficiency and solid malignant tumor in two siblings (author's transl)]. 91 26

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.
 ...
PMID:Evidence for complement activation by the alternate pathway in the arthritis of hypogammaglobulinemic patients. 108 30

The role of suppressor cells in the pathogenesis of immunodeficiency was analyzed using a technique that permits study of the differentiation of B lymphocytes into immunoglobulin-synthesizing plasma cells. Lymphocytes from normals synthesized 4,910 ng of IgM, 1,270 ng of IgA, and 1,625 ng of IgG per 2 X 10(6) cells when cultured for 7 days in the presence of pokeweed mitogen. In contrast the lymphocytes from patients with common variable hypogammaglobulinemia did not synthesize significant quantities of immunoglobulin. When lymphocytes from 9 of 13 patients with common variable hypogammaglobulinemia studied were cocultured with normal lymphocytes, the synthesis of immunoglobulin by the normal lymphocytes was depressed by 75-100%. A comparable suppression of immunoglobulin synthesis by normal lymphocytes was observed when they were cocultured with T cells from hypogammaglobulinemic patients. These studies suggest that in some patients the disease common variable hypogammaglobulinemia may not be due to an intrinsic defect of B cells alone but may be cuased or perpetuated by an abnormality of regulatory T cells that act to suppress B-cell maturation and antibody production. Peripheral blood lymphocytes from myeloma patients also had a drastically reduced capacity to produce polyclonal immunoglobulins. Three of 6 myeloma patients tested had circulating mononuclear cells that suppressed immunoglobulin production by cocultured normal lymphocytes. Purified T cells from myeloma patients did not mediate this suppressor effect. These observations suggest that one mechanism for the humoral immune deficiency observed in myeloma patients is a block of polyclonal B-cell maturation by suppressor cells.
 ...
PMID:The role of suppressor cells in the pathogenesis of common variable hypogammaglobulinemia and the immunodeficiency associated with myeloma. 108 93

Immunodeficiency and hypogammaglobulinemia are shown to occur by a variety of pathophysiologic mechanisms. Hypogammaglobulinemia may be caused by decreased synthesis of all classes of immunoglobulins, or may involve defective synthesis of selective classes of immunoglobulins. Alternatively, hypogammaglobulinemia may be due to a disorder of endogenous catabolic pathways of a single immunoglobulin class, or of all immunoglobulin classes. Finally, hypogammaglobulinemia may be caused by excessive loss of immunoglobulins into the urinary or gastrointestinal tracts.
 ...
PMID:Immunoglobulin metabolism in disease. 109 99

Asparagine-linked sugar chains of plasma membrane glycoproteins, which are formed by glycosylation during B cell maturation, were examined with B lymphoblastoid cell lines (LCLs) transformed by Epstein-Barr virus derived from healthy controls and patients with common variable immunodeficiency (CVI). Both two patients with CVI showed hypogammaglobulinemia and impaired B cell functions. LCLs from healthy controls and the patients showed CD19+ and HLA/DR+ in the cell surface and secreted IgM. In both healthy controls and the patients, the main oligosaccharide in asparagine-linked sugar chains of the membrane glycoproteins of LCLs was biantennary sugar chain with bisected GlcNAc (Gal2-GlcNAc2-Man3-GlcNAc-GlcNAc-Fuc-GlcNAcOT). Biantennary sugar chain with an alpha-fucosyl residue linked at the proximal GlcNAc was seen but biantennary sugar chain without an alpha-fucosyl residue at the proximal GlcNAc was little detected in each LCL. There was no difference in quality and quantity of asparagine-linked sugar chains between healthy controls and the patients. These results suggest that glycosylation during B cell maturation may not be impaired in patients with CVI.
 ...
PMID:Asparagine-linked sugar chains of plasma membrane glycoproteins from healthy and common variable immunodeficiency B lymphoblastoid cell lines. 132 Mar 90

The majority of patients with common variable immunodeficiency (CVI) have low to normal numbers of membrane Ig-bearing B cells; yet these cells fail to differentiate in vivo resulting in hypogammaglobulinemia. We have suggested that the differentiation failure of CVI B cells is related to a failure to respond appropriately to signals involved in terminal B cell differentiation as most CVI subjects' cells undergo activation and proliferation normally. Whether this failure relates to a direct "intrinsic" defect in the B cells or is secondary to a lack of appropriate T cell or other influences in vivo is uncertain. We have previously reported that the majority of patients with CVI have elevated circulating levels of IL-6. We now show that the IL-6 produced by these patients is functionally normal. Additionally, the display of IL-6 receptors on in vitro stimulated CVI B cells is normal. However, we found that the patients' cells do not make IgE in response to an IL-6/T-cell-dependent differentiation pathway employing exogenous interleukin-4 (IL-4). The failure to respond in the IL-6-dependent system could not be overcome by exogenous IL-6 or varying doses of IL-4. In contrast, when stimulated by CD40 plus IL-4 in a differentiation pathway that does not require IL-6, B cells from CVI patients were stimulated to produce IgE. These findings, along with our earlier data showing that 13-cis-retinoic acid can drive maturation in CVI patients, strengthen the concept that B cells in patients with CVI have the potential for terminal differentiation but do not appear to achieve this in vitro or in vivo through a polyclonal Ig differentiation pathway that employs IL-6 as one of its maturation signals.
 ...
PMID:B cells from subjects with CVI can be driven to Ig production in response to CD40 stimulation. 138 64


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>