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)

Subtle immunodeficiency to infectious agents including measles virus and ten Epstein-Barr virus (EBV) has been described in the X-linked recessive lymphoproliferative syndrome. This syndrome has affected six male cousins and possibly another boy. Three brothers died of an infectious mononucleosis syndrome, in a maternal cousin agammaglobulinemia developed three years after infectious mononucleosis, and two half-brothers of the Duncan kindred died of lymphoma of the brain and intestinal tract, respectively. In three of the boys, unusual measles viral infections had developed. Paramyxovirus-like particles suggestive of measles virus were seen at necropsy in the atrophic lymphoid tissue of two boys. Also, numerous plasma cells were seen in the brains, visceral organs and the thymus glands, and thymic-dependent lymphocytes were sparse in lymph nodes and spleen. The abnormal lymphopoiesis in the syndrome probably results from a subtle immunodeficiency, and concurrent measles and EB virus infections.
 ...
PMID:Hematopathology and Pathogenesis of the X-linked recessive lymphoproliferative syndrome. 83 2

A newborn with multiple malformations, recurrent infections and hypocalcemic tetany is presented. The malformations included: Facial asymmetry, micrognathia, epicantus, low set nose, peculiar ears, club-feet and heart disease. The immunologic work-up disclosed a cellular immunodeficiency, but normal humoral immunity, and a diagnosis of "incomplete DiGeorge syndrome" was made. No thymus, nor parathyroid glands were found at autopsy. The disagreement between the analytical data and the pathological findings of "complete DiGeorge syndrome" are discussed. The existence of vestigial ectopic thymus not found in the dissected organs is considered the most likely hypothesis. Finally some considerations are made about a possible role of the rubeola virus on its etiology and the actual therapeutic possibilities.
 ...
PMID:[Incomplete Digeorge syndrome (author's transl)]. 98 6

An extract of calf thymus, thymosin, induces an increase in percentage of T-cell rosettes when incubated in vitro with sheep erythrocytes and lymphocytes from patients with primary immunodeficiency diseases or viral illness. Precursor lymphocytes are required for this increase to occur. The percentage of T-cell rosettes, when they are normal, is not increased further upon incubation with thymosin. A patient with thymic hypoplasia and immunoglobulin synthesis was selected to receive thymosin in vivo when her T-cell rosettes had increased from 15 to 48 per cent after in vitro incubation with thymosin. During therapy, she clinically improved, the percentage of T-cell rosettes gradually increased to normal, and positive delayed hypersensitivity skin tests developed. Thymosin may be useful clinically for partial reconstitution of cellular immunity. An increased percentage of T-cell rosettes after incubation with thymosin in vitro may predict which patients will respond to thymosin therapy in vivo.
 ...
PMID:Thymosin activity in patients with cellular immunodeficiency. 107 52

The quantitative studies of B lymphocytes in peripheral blood have been performed in various forms of primary and secondary immunodeficiency disease in man. X-linked agammaglobulinemia was found to comprise two sub-types, one lacking B-cell population, the other showing low numbers of B lymphocytes. The absence of B cells in severe combined immunodeficiency was corrected by marrow transplants in 3 children. Cases of DiGeorge syndrome and lepromatous leprosy showed an absolute increase in numbers of B lymphocytes in peripheral blood, probably a compensatory mechanism in the market deficit of T-cell population and function. The reconstitution of DiGeorge syndrome by fetal thymus transplant reversed the abnormally high percentage of B lymphocytes.
 ...
PMID:B lymphocytes in primary and secondary deficiencies of humoral immunity. 108 58

In a review of thymus transplants performed in a variety of immunodeficiency syndromes, results in the DiGeorge syndrome seen uniformly successful. Rapid restoration of lymphocyte responsibility in vitro and achievement of normal peripheral blood lymphocyte counts are characteristic. In nearly all other types of isolated thymic deficiency or combined immunodeficiency there has been only transient or meager restitution and more often than not complete failure. A few exceptions were noted in a combined immunodeficiency state and in two cases of isolated T-cell deficiency. The use of transfer factor may have played an important adjunctive role. Future attempts must depend upon more precise characterization of the defects, utilizing attempts to define subpopulations of T and B cells; consideration of HL-A restrictions; methods of implantation and use of adjunctive measures (eg thymosin) or other cell populations (such as liver or spleen).
 ...
PMID:Thymus transplants: a look to the future. 108 59

Antibody-dependent cell immunity to the lymphocyte system (ABCIL) has been shown to be a function of a non-thymus-processed cell in the experimental animal. To evaluate its role in the human and to assess its clinical usefulness, we assessed ABCIL in twenty-five patients with various immunodeficiency (ID) syndromes. Our technique measures the lysis of 51Cr-labelled normal human lymphocytes coated with HL-A-specific antibody. Cytotoxicity is expressed as a percentage of 51Cr released after subtracting the spontaneous target cell release. Mean values in normals are 20+/-2 (s.e.). The ten patients with AB deficiency had a mean ABCIL of 7-9+/-2 (Pless than0-01). All eight patients with cellular ID had normal ABCIL (18+/-2), while the ten patients with combined ID had variable results. Effector cell function in the ABCIL test correlated (r=0-74; Pless than0-05) with the percentage of B cells in the peripheral blood. No correlation was found between ABCIL function and serum immunoglobulin levels or rosette-forming cells in the peripheral blood. There is a function for B lymphocytes other than as a precursor of antibody-synthesizing cells.
 ...
PMID:Antibody-dependent lymphocyte killer function in human immunodeficiency diseases. 108 21

The pattern of immunodeficiency in plasmacytoma-bearing mice appears to be unique. Mice bearing these tumors exhibit a severe impairment in their ability to mount a primary immune response to thymus-dependent and -independent antigens. However, cell-mediated immune functions in these mice apparently remain intact. Thus, when T cell activity of lymph node cells from plasmacytoma-bearing mice was tested in vivo by sensitization with dinitrofluorobenzene and in vitro by responsiveness to phytohemmagglutinin, allogeneic cells, and dinitrobenzene sulfonate, cell-mediated immunity was found to be normal.
 ...
PMID:Cellular specificity of plasmacytoma-induced immunosuppression. 108 3

Immunodeficiency functionally limited to the B-cell system together with mild hypothyroidism and severe growth hormone deficiency was found in a 6 1/2-month-old female infant with recurrent infections and growth retardation. A lymph node biopsy and post mortem examination of the lymphoid organs surprisingly revealed severe deficiency of both thymus-dependent and bursa-equivalent systems. The unusual combination of immune and endocrine deficiencies posed a difficult diagnostic problem. The hypothesis of an early-onset Louis-Bar syndrome was suggested and apparently corroborated by the autopsy findings of ovarian dysgenesis and cerebellar degeneration. The dissociation between functional and morphological findings as regards the immunodeficiency, and the possible links between immune and endocrine derangements are discussed.
 ...
PMID:Unusual combination of immune and endocrine deficiencies. A possible case of early-onset Louis-Bar syndrome. 108 26

Some evidence for identification of human rosette-forming cells as thymus and thymus-dependent lymphocytes (T cells) is presented. Application of the rosette assay to several clinical conditions including primary immunodeficiency diseases indicates the usefulness of this assay in quantitating the number of T cells in peripheral blood.
 ...
PMID:Some characteristics of human rosette-forming cells. 109 74

Although an isolated clinical case report was published in 1926 and another in 1941, ataxia-telangiectasia (A-T) was not established as a distinct entity until 1957, when it was first delineated clinicopathologically. Susceptibility to sinopulmonary infection was identified as the main cause of death and as the third major component of the syndrome; its heredofamilial nature was documented, and it was designated "ataxia-telangiectasia." In a later review of 101 published cases, lymphoreticular malignancy emerged as the second most frequent cause of death. Although the thymus was found to be absent in the first reported autopsy in 1957 and the serum IgA deficiency was first recorded in 1961, A-T was not established as an immunodeficiency disease until 1963. Thymic abnormality and dysgammaglobulinemia explain the 2 main causes of death, sinopulmonary and neoplastic, but the immunodeficiency is probably not the central defect. It does not appear to explain either of the 2 main clinical diagnostic keys, the ataxia and the telangiectasia, or any of the other seemingly unrealted multisystemic facets of this complex disorder. Some of our most provocative long-term clinical observations and recent pathologic findings in our series of 9 autopsies are discussed.
 ...
PMID:Ataxia-telangiectasia: some historic, clinical and pathologic observations. 109 82


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