Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “primary immunodeficiency”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1975

Primary immunodeficiency diseases and malignancy.

The incidence of malignant tumors in the primary immunodeficiency diseases is dramatically increased. Four patients with primary immunodeficiencies who developed fatal malignancies are reported. Lymphoreticular tumors and leukemia predominate in most conditions, but epithelial neoplasms are the most common tumors in selective Iga deficiency, and they comprise over one-fourth of malignancies in common variable immunodeficiency. With the exception of common variable immunodeficiency and the Wiskott-Aldrich syndrome, hyperplasia of lymphoid tissue usually does not occur. Lymph node enlargement in any of the other immunodeficiencies is therefore most likely secondary to malignancy. Benign gastrointestinal nodular lymphoid hyperplasia occurs frequently in common variable immunodeficiency and in some instances may be impossible to differentiate roentgenologically from lymphoma.

Adenocarcinoma↗
PubMedDate not supplied

Disulfide-linked and non-disulfide-linked gamma/delta T-cell antigen receptors: differential expression on T-cell lines and clones derived from normal donors and patients with primary immunodeficiency disorders.

We studied the expression of gamma delta T cell receptors (TCR) on T-cell lines and clones derived from peripheral blood lymphocytes (PBL) from certain patients with primary immunodeficiency disorders and normal donors. Immunoprecipitation with the anti-Leu 4, anti-gamma-chain and/or anti-delta-chain monoclonal antibodies followed by SDS-PAGE analysis revealed that 7 of 13 (54%) T-cell lines and clones developed from PBL of patients with primary immunodeficiency disorders expressed non-disulfide-linked gamma delta TCR, utilizing either the C gamma 2abc or the C gamma 2bc gamma-chain constant region gene segment. 5 of 13 (38%) T-cell lines/clones expressed disulfide-linked gamma delta TCR, whereas an additional T-cell line was comprised of T cells expressing either disulfide-linked (C gamma 1) or non-disulfide-linked (C gamma 2bc) gamma delta TCR. T-cell lines and clones developed from four of light patients with primary immunodeficiency disorders exhibited exclusively non-disulfide-linked gamma delta TCR utilizing either the C gamma 2abc or the C gamma 2bc gamma-chain segment. T-cell lines derived from a fifth patient exhibited primarily non-disulfide-linked gamma delta TCR, bringing to five of eight the numbers of patients that expressed exclusively or primarily non-disulfide-linked gamma delta TCR. T-cell lines/clones derived from the remaining three patients exhibited exclusively disulfide-linked gamma delta TCR. The age of these patients varied over a wide range and there was not an association between their age and the type of gamma delta TCR expressed on T-cell lines derived from their PBL. In contrast, to these findings 14 of 16 (87.5%) T-cell clones derived from PBL of normal donors expressed disulfide-linked gamma delta TCR, whereas only 2 of 16 (12.5% expressed non-disulfide linked gamma delta TCR. Among the T-cell clones from normal donors which express disulfide-linked gamma delta TCR two different types were identified. Those exhibiting under reducing conditions on SDS-PAGE two completely resolved polypeptide chains in the range of 37 kD to 44 kD, and those exhibiting under the same conditions indistinguishable overlapping gamma- and delta- chains in the range of 40-42 kD. Several T-cell lines and clones from normal donors or patients with primary immunodeficiency that expressed either disulfide- or non-disulfide-linked gamma delta TCR were delta TCS1+, demonstrating that the delta TCS1 determinant is expressed on both types of gamma delta TCR.(ABSTRACT TRUNCATED AT 400 WORDS)

Antigens, CD↗
PubMed1977

HLA frequencies in primary immunodeficiency diseases (pidd).

Thirteen patients with primary immunodeficiency disorders and their twenty-five healthy first-degree relatives were tissue typed and their HLA make-up was compared with that of a normal control population. HLA-A2 occured in 92.3% of patients as opposed to 60.8% in the control group (P less than 0.02), HLA-A9 in 7.6% vs. 25% (P less than 0.02) and HLA-B8 in 0% vs. 21% (P less than 0.04). One of the patients with severe combined immunodeficiency showed one "extraneous" HLA specifity.

Adolescent↗
PubMed1976

Rosette formation with mouse erythrocytes. III. Studies in patients with primary immunodeficiency and lymphoproliferative disorders.

Rosette formation with mouse erythrocytes and other cell-surface markers were examined on lymphocytes from patients with a variety of primary immunodeficiency and lymphoproliferative disorders. Mouse erythrocyte rosette-forming cells and lymphocytes with surface immunoglobulins were regularly absent in patients with Bruton type agammaglobulinaemia, immunodeficiency and thymoma syndrome and severe combined immunodeficiency disease. However, they were present in normal or low numbers in patients with common variable immunodeficiency, selective IgA deficiency and ataxis telangiectasia. Lymphocytes from patients with acute lymphoblastic leukaemia Sezary syndrome and mycosis fungoides made no or few rosettes with mouse erythrocytes. Increased numbers of mouse erythrocyte rosette-forming cells were present in patients with chronic lymphocytic leukaemia and Waldenstrom's macroglobulinaemia. The significance of the mouse erythrocyte rosette as a B-cell marker in the analysis of primary immunodeficiency and lymphoproliferative disorders is discussed.

Agammaglobulinemia↗
PubMed1992

Primary immunodeficiencies: genetic risk factors for lymphoma.

It has been estimated that up to 25% of patients with certain genetically determined immunodeficiencies will develop tumors, primarily B-cell lymphomas, during their lifetime. Epstein-Barr virus appears to be an important cofactor in the development of lymphoproliferative disorders in patients with primary immunodeficiencies, as well as acquired immunodeficiencies. Additionally, host defects in immunoregulation and/or gene rearrangement, which are features of certain primary immunodeficiencies, probably contribute to the risk of lymphomagenesis in patients at risk.

Adolescent↗
PubMed1977

Pathomorphology of humoral, cellular and combined primary immunodeficiencies.

Histologic, immunohistologic and electron microscopic findings in three children with primary immunodeficiencies are reported. Classical X-linked infantile agammaglobulinemia Bruton was present in case 1 (male, aged 16 years), selective cellular immunodeficiency with thrombopenia in case 2 (male, aged 2 1/2 years) and non-lymphopenic severe combined immunodeficiency in case 3 (male, aged 1 3/4 years). At autopsy, all three cases exhibited unusual types of pneumonia. In case 2 a generalized cytomegalovirus infection was present. Case 3 disclosed panmyelopathia and chronic liver lesions due to severe GvH-reaction subsequent to bone marrow transplantation. A detailed morphologic study of the immune system revealed distinct alterations in the thymus, spleen, and lymph nodes and the lymphatic tissues of the gastrointestinal tract characteristic of an immunodeficiency state, either humoral (case 1), cellular (case 2) or combined (case 3).

Adolescent↗
PubMed1977

Conjuctivitis and keratoconjunctivitis associated with primary immunodeficiency diseases.

Nineteen patients with a variety of well-defined primary immunodeficiency diseases were examined for ocular abnormalities. Eight patients with low levels, or absence, of all the major serum immunoglobulins had conjunctivitis or keratoconjunctivitis associated with bacterial infection. The remaining 11 patients, who had at least one immunoglobulin class present in normal concentration in the serum, showed no inflammatory ocular lesion. Absence of only IgA, the major tear immunoglobulin, did not predispose the eye to these lesions.

Adolescent↗
PubMed1979

Protein A-positive staphylococci serve as a selective B cell mitogen for lymphocytes from primary immunodeficiency patients.

Staphylococcus aureus protein A-positive bacteria have recently been proposed as selective B lymphocyte mitogens. We have studied the lymphocyte response to such mitogens in bacteria in normal subjects and in patients with primary immunodeficiencies. Patients with primary T cell defects show a normal response to protein A-positive bacteria and impaired responses to PHA and Con A. In contrast, patients with Bruton agammaglobulinaemia respond normally to these T cell mitogens but not to the bacteria. Thus, protein A-positive bacteria fulfil the criteria for being a T cell-independent B cell mitogen for human peripheral blood cells.

Adult↗
PubMed1975

Primary immunodeficiency and malignancy.

Evidence indicating an essential relationship between immunologic deviation and cancer has accumulated rapidly over the past 15 years. Following a brief review of the enormous body of literature linking experimental immunodeficiency and cancer, this discussion will center on humans with primary immunodeficiency disorders and the inordinate number of malignancies which develop in these patients.

Agammaglobulinemia↗
PubMed1975

Immunoglobulin D-bearing lymphocytes in primary immunodeficiencies.

Surface IgD on blood lymphocytes was studied in 10 normal adults and 24 patients with primary immunodeficiencies by direct immunofluorescence, together with surface immunoglobulins of the other classes and with spontaneous rosette formation with sheep erythrocytes. In the normal adults, 8% of the lymphocytes bore delta chains (the figures for mu chains being 11%) and, among the cells positive for mu and/or delta, 70% were mixed stained, 22% and 8% being single stained for mu and delta respectively. In 10 patients with sex-linked agammaglobulinemia or variable immuno-deficiency, practically no cells bearing surface immunoglobulins, including IgD, were detectable. A normal distribution of surface immunoglobulins, including the results of double labeling for mu and delta, was found in five other immunodeficiency patients in whom there was a block of the terminal differentiation of B lymphocytes into plasma cells. A new kind of block in the differentiation of the B cell line was observed in two patients affected with sex-linked severe combined immunodeficiency and variable immuno-deficiency respectively. They showed high figures for IgD-bearing lymphocytes, some of which carried simultaneously mu chains, contrasting with the absence of lymphocytes carrying IgM without IgD and of IgG- or IgA-bearing cells. The data obtained in several other patients with low figures for IgG- and IgA-bearing lymphocytes and a predominance of IgD-carrying cells with an excess of single producers for delta chains over single producers for mu chains suggest an analogous but incomplete maturation arrest.

Animals↗
PubMed1992

Primary immunodeficiency diseases and Epstein-Barr virus-induced lymphoproliferative disorders.

Increased incidence of malignant disorders is noted in patients with both primary and acquired immunodeficiency diseases. The pathogenetic mechanism(s) for these disorders remain unclear. Defective immunosurveillance of these patients, however, is mainly postulated to be responsible for the increased risk of these malignant disorders. Of the malignant disorders, Epstein-Barr virus (EBV)-induced lymphoproliferative disorders (LPD) have been increasingly reported, possibly due to improved therapeutic management techniques such as bone marrow transplantation, which results in prolonged survival periods for the primary immunodeficiency; the dramatic development of immunosuppressive treatments for transplant recipients; and the growing numbers of acquired immunodeficiency syndrome (AIDS) patients. This review focuses on the primary immunodeficiency diseases and EBV-induced LPD, and discusses pathogenetic mechanism(s) for the increased incidence of these malignant disorders.

Adolescent↗
PubMed1978

Antibody-dependent cellular cytotoxicity in primary immunodeficiency diseases and with normal leukocyte subpopulations. Importance of the type of target.

To gain insight into a possible role for antibody-dependent cell-mediated cytotoxicity in vivo, we examined the ability of leukocytes from 28 patients with primary immunodeficiency and from 20 normal controls to lyse three different types of antibody-coated targets in vitro. Mean cytotoxic indices +/-1 SD elicited by unfractionated mononuclear cells from normal controls were 28.74+/-13.26 for human HLA antibody-coated lymphocyte targets, 42.79+/-8.27 for rabbit IgG antibody-coated chicken erythrocyte targets, and 47.58+/-10.34 for human anti-CD (Ripley)-coated O+ erythrocyte targets. Significantly (P=<0.05) lower than normal mean cytotoxic indices against lymphocyte targets were seen with effector cells from 10 patients with X-linked agammaglobulinemia (3.7+/-4.33), in 10 with common variable agammaglobulinemia (16.05+/-7.74), in 3 with immunodeficiency with hyper IgM (18.41+/-4.88), and in 2 with severe combined immunodeficiency (3.94+/-0.3). Antibody-dependent cytotoxicity against chicken erythrocytes was significantly (P=<0.05) lower than normal only in the common variable agammaglobulinemic group (33.33+/-12.3) and against human erythrocytes only in the common variable (34.36+/-9.59) and hyper IgM (27.54+/-0.66) groups. Rosette and anti-F(ab')(2) depletion studies with normal leukocytes indicated that a nonadherent, nonphagocytic, non-Ig-bearing, non-C receptor-bearing, Fc receptor-bearing lymphocyte was the only effector capable of lysing HLA antiboyd-coated lymphocyte targets. Patients with infantile X-linked agammaglobulinemia and severe combined immunodeficiency appear to have a marked deficiency in this type of effector cell function.

Agammaglobulinemia↗
PubMed1976

[Adenosine deaminase deficiency in primary immunodeficiencies (author's transl)].

The occurrence of severe combined immunodeficiency (SCID) with adenosine deaminase (ADA) deficiency in erythrocytes has been reported in 14 patients. Enzyme deficiency may result in early depression of the lymphatic system. ADA is detectable in different tissues by photometric and electrophoretic methods. The gene locus for ADA has been localised on chromosome 20. Studies on the enzyme defect in different forms of primary immunodeficiencies led to the description of a well defined nosological entity. New aspects can be expected in the fields of pathogenesis, prenatal diagnosis, genetic councelling, and possibly therapeutic trials.

Adenosine Deaminase↗
PubMed1975

Cell-mediated lympholysis in vitro. Independence of mixed lymphocyte reactions and T-cell mitogen responses from the in vitro generation of cytotoxic effectors in primary immunodeficiency diseases.

Cell-mediated lympholysis (CML) in eighteen patients suffering from primary immune deficiencies was studied. Fourteen of these patients had the variable type. Mixed lymphocyte response (MLR) and CML were clearly found to be independent: as well as two groups of patients in whom the two functions were either both normal or both deficient, two other groups were found in whom they were definitely separate. In one group MLR and T-cell mitogen responses were normal but no CML occurred against allogenic lymphocytes, and in the other cytotoxic effectors were generated normally but MLR and T-cell mitogen responses were very much lower than normal. These results show that the functions are independent, and are compatible with the theory that more than one subpopulation of T cells is involved. Neither the MLR or T-cell mitogen responses of these patients can predict their ability to generate cytotoxic effectors.

Cytotoxicity Tests, Immunologic↗
PubMed1978

[Primary immunodeficiencies and malignant proliferations (author's transl)].

The occurrence of malignant proliferative diseases in patients with primary immune deficiencies is far more frequent than in normal individuals. These malignant proliferations may supervent in all types of immune deficiencies but are more frequent in the Wiskott-Aldrich syndrom, ataxia telangiectasia and variable immunodeficiencies. The incidence of malignant lymphomas is striking since they account for two thirds of the malignancies. This fact does not support the hypothesis of a faulty immunological surveillance and would be in accordance with the hypothesis of a direct role of antigenic stimulations occurring on an immune system devoid of regulatory mechanisms.

Agammaglobulinemia↗
PubMed1979

Subpopulations of human T lymphocytes. VIII. Locomotion of lymphocyte subpopulations in patients with primary immunodeficiency disorders.

Peripheral blood T and non-T lymphoid cells were examined in 31 patients with a variety of primary immmunodeficiencies for their locomotor activity toward casein and endotoxin-activated serum. T cells from 1 and non-T cells from 2 of 7 patients with Bruton type agammaglobulinemia had poor locomotor activity in this system. Both T and non-T lymphoid cells from all patients with common variable immunodeficiency disease had normal locomotor response to casein and EAS. Heterogeneity in locomotor abnormaltiy of T and non-T cells toward casein and endotoxin-activated serum was observed in other immunodeficient patients. No direct correlation was observed between the proportion of cells in the several T cell subsets and the abnormalities of locomotion of T cells.

Agammaglobulinemia↗