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)

As an alternative to bone-marrow transplantation, two infants with severe combined immunodeficiency who had no histocompatible donors were given intraperitoneal infusions of fresh liver cells from fetuses of eight and nine to 10 weeks. Transient graft-versus-host disease began at 42 and 52 days, respectively. Both infants had rises in T cells and declines in B cells by three months. No functional immunologic improvement occurred in the first infant, who died of pulmonary disease 10 months later. Clinical and functional immunologic improvement occurred in the other, who is now 19 months after transplantation. Lymphocyte responses to phytohemagglutinin and pokeweed mitogen were noted by three months, to concanavalin A by five months, and to allogeneic cells by eight months. Delayed cutaneous responsiveness to candida developed and IgM became norma. IgA and IgG remained low. Chimerism was demonstrated by a donor marker chromosome in metaphases from recipient lymphocytes. Fetal liver cells therefore reversed the immunodeficiency.
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PMID:Correction of severe combined immunodeficiency by fetal liver cells. 0 37

We have used lymphocyte stimulation in vitro to characterize the degree of cell-mediated immunodeficiency in different patients. The effect of treatment of patients with immunodeficiencies is illustrated by lymphocyte transformation in vitro before, during and after therapy (eg bone marrow transplantation of severe combined immunodeficiency and transfer factor treatment in Wiskott-Aldrich syndrome). The mixed lymphocyte culture test has been used for selection of bone marrow transplant donor for a patient with CID when an HL-A identical sib was not available. The results of the transplantation in this patient with graft from a donor who differed from the patient in respect of both HL-A haplotypes (but MLC identical with the patient) is reported. The MLC data on another family with 2 children with Nezelof disease are reported. The data indicate that one of the patients could be a chimera after intrauterine grafting of maternal immunocompetent cells.
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PMID:Lymphocyte transformation in vitro in patients with immunodeficiency diseases: use in diagnosis, histocompatibility testing and monitoring treatment. 5 99

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).
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PMID:Pathomorphology of humoral, cellular and combined primary immunodeficiencies. 19 90

T lymphocytes with receptors for IgM(Tmu) and IgG(Tgamma) were examined in thirty patients with primary immunodeficiency and autoimmune disorders. Six out of twenty-seven patients with primary immunodeficiency had a low proportion of Tmu cells when compared with normal controls. Eight out of twenty-seven patients with primary immunodeficiency had an increased proportion of Tgamma cells. Two out of twenty-seven patients had both a low proportion of Tmu cells and a high proportion of Tgamma cells. The patient studied with severe combined immunodeficiency had a low proportion of both Tmu and Tgamma cells. Patients with Bruton-type agammaglobulinaemia, common variable immunodeficiency, thymoma and immunodeficiency syndrome and selective IgA deficiency demonstrated heterogeneity with regard to alterations in T-cell subpopulations.
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PMID:Subpopulations of human T lymphocytes. I. Studies in immunodeficient patients. 30 82

Thymic function was evaluated by quantitation of circulating thymic factor in patients with several forms of severe infantile immunodeficiency diseases. Direct quantitation of thymic factor in serum of patients with severe combined immunodeficiency revealed heterogeneity of this syndrome by this parameter, as was also shown by study of susceptibility of the marrow cells to differentiation in vitro. Thymic factor was not detectable in one patient with severe combined immunodeficiency, but was present in normal or near-normal concentrations in three others. Circulating levels of this hormonal activity were also not detectable in a patient with DiGeorge athymic syndrome. Following marrow or fetal liver transplantation, which corrected the severe combined immunodeficiency thymic factor levels either increased slightly or did not change appreciably. Fetal thymic transplantation, which together with fetal liver transplantation corrected the immunodeficiency in one patient with severe combined immunodeficiency, was associated with increase of thymic factor to normal levels. Fetal thymus transplantation alone, which was employed to correct the immunodeficiency of DiGeorge athymic syndrome, caused an increase in thymic factor activity to normal or near normal levels in this patient.
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PMID:Thymic activity in severe combined immunodeficiency diseases. 32 51

Generalized BCG infection can occur after vaccination in patients with a severe combined or T-cell immunodeficiency. In the reported case, generalized BCG infection developed in an infant with a severe combined immunodeficiency disease and presented mainly with hematological manifestations. This infection led to death of the patient in spite of an histocompatible bone marrow transplantation performed late in the course of the disease and followed by a minimal graft-versus-host reaction. Based on this case report and others from the literature, it is suggested that neonatal BCG vaccination should be performed after knowing at least the complete family history. Although the presented patient died, it should seem reasonable to treat such patients with an early immunological reconstitution and with anti-TB antibiotics.
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PMID:[Generalized BCG infection in mixed and severe immunologic deficiency. Unfavorable outcome in spite of an attempted bone marrow transplant]. 33 23

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.
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PMID:Antibody-dependent cellular cytotoxicity in primary immunodeficiency diseases and with normal leukocyte subpopulations. Importance of the type of target. 61 6

To more fully characterize immunodeficiency states, thymic biopsies add useful information. The transcervical technique is simple and does not require a sternal-splitting procedure. The thymus was much larger than anticipated in 12 of 12 cases so far biopsied, including six cases of severe combined immunodeficiency. A sample of 2-3 gm was readily removed. A slight wound infection was encountered in only one instance; no generalized septic episode resulted.
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PMID:Transcervical thymic biopsy in children with immunodeficiency. 68 94

Pathomorphologic findings in an 11 month old boy with severe combined immunodeficiency (case 1) and in a 4-month old boy with reticular dysgenesia (case 2) are reported. Case 1: The bone marrow exhibited regular granulo-, erythro- and thrombopoiesis. The hypoplastic thymus consisted exclusively of epithelial reticulum cells. The spleen and lymph nodes showed considerable depletion of lymphocytes in both the T- and B-cell areas. There was a complete lack of all lymphatic structures in the gastrointestinal tract and aplasia of the tonsils. Death resulted from Candida sepsis in conjunction with giant cell pneumonia closely resembling Hecht's pneumonia in measles. Case 2: The bone marrow showed a total lack of granulopoiesis. The storngly dysplastic thymus weighed only 1 g. The spleen, the lymph nodes and the gastrointestinal tract exhibited a very strange histologic structure resulting from a complete absence of lymphocytes and plasma cells. The tonsils were aplastic, the para-thyroid glands as well as the other endocrine glands were normally developed. The cause of death was Klebsiella sepsis and Pneumocystis pneumonia, the latter without the characteristic interstitial plasma cell infiltration. The importance of the immune system for activation of the nonspecific mechanisma of defense is discussed with respect to the two types of immunodeficiency states described here.
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PMID:Pathomorphologic findings in severe combined immunodeficiency and reticular dysgenesia. 81 95

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.
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PMID:HLA frequencies in primary immunodeficiency diseases (pidd). 83 47


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