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)

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

A potent inhibitor of cell proliferation was found in the urine of a patient with chronic renal failure. This substance included in "middle molecules" (MM) fraction, was obtained by chromatography. This factor was shown to inhibit noticeably the proliferation of various cells : lymphocytes stimulated by allogeneic cells, monolayer cell lines of normal or tumorous origin and leukemic cell lines derived from acute lymphoblastic leukemia. This effect was reversible and thus could not be related to a direct, rapid cytotoxic effect of MM. Such substances could play an important part in uremic symptoms, such as immunodeficiency, anemia, thrombopenia, gastrointestinal or skin manifestations.
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PMID:A potent inhibitor of cell proliferation in "middle molecules" isolated from the urine of uremic patients. 54 28

Within the group of diseases of immunodeficiency Wiscott-Aldrich syndrome can be excepted as one with well definical picture. Here presented are two patients with allness onset in the earliest childhood. Their chinical picture was a typical one showing often infections, thrombocytopenia and later appearance of eczema. Beside the dicreased number of the thrombocytes both patients had eosynophilia, changed immunoglobulines and lack of isohemogglutinin. One of them also showed low response to phytohemagglutinin and low values of the T and B rosettes. One of the patients lived until four years of age while the other one is aged five now and is in relatively good condition.
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PMID:[Wiskott-Aldrich syndrome]. 61 12

Fetal thymus transplantation was performed in three patients with thymic hypoplasia with abnormal immunoglobulin synthesis, one patient with ataxia telangiectasia, and one patient with immunodeficiency with eczema and thrombocytopenia. All patients received transfer factor before transplantation of a fetal thymus i.p. Reconstitution of cell-mediated immunity occurred in three of five patients. Two of the three patients with reconstitution of cell-mediated immunity also had evidence of improved antibody-mediated immunity. Reconstitution of cell-mediated immunity was characterized as occurring rapidly and being of varying duration, and was unassociated with HL-A chimerism. Successful reconstitution of immunity in these patients may have been related to several factors, including the use of fetal thymus less than 6 hr after abortion, i.p. transplantation, and a synergistic effect of transfer factor.
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PMID:Thymus transplantation in patients with thymic hypoplasia and abnormal immunoglobulin synthesis. 120 26

A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia. Studies of immune function including immunoglobulin levels and T-cell subsets were normal. Furthermore, his T lymphocytes proliferated normally in response to phytohemagglutinin, concanavalin A, and the combination of neuraminidase/galactose oxidase. However, their proliferative responses to anti-CD43 antibody and periodate were diminished, consistent with the clinical diagnosis of WAS. An initial inguinal lymph node biopsy surprisingly revealed Kaposi sarcoma. However, following splenectomy to increase the platelet count, biopsy of the mediastinal mass revealed T-cell large cell lymphoma. Studies of biopsied tissue for the presence of Epstein-Barr virus and cytomegalovirus were negative, as were studies of blood, including the polymerase chain reaction, for the presence of the human immunodeficiency virus (HIV). This is the first report of Kaposi sarcoma arising in a patient with a congenital immunodeficiency syndrome. Although Kaposi sarcoma can arise in the face of the severe immunosuppression that follows allograft transplantation and in patients infected with HIV, we postulate that longevity in the face of mild immunosuppression was the major factor in the development of Kaposi sarcoma in this patient.
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PMID:Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome. 131 18

Current techniques allow the manufacture of intravenous immunoglobulin that fully retain their antibody content and function. Immunoglobulins have been show to be effective therapy for immune thrombocytopenia, neonatal allo(iso)immune thrombocytopenia, agammaglobulinemia, acquired immunodeficiency., premature neonates, burn patients, prophylaxis and treatment of infection in high risk and other conditions.
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PMID:[The indications for intravenous immunoglobulins in pediatric practice]. 132 24

We analyzed platelet-associated antigens from a hemophilia B patient with human immunodeficiency virus type 1 (HIV-1)-related thrombocytopenia. Two bands appeared at 31,000 and 37,000 daltons in the platelet lysate after reaction with autologous serum in SDS-PAGE and Western blots. The band at 37,000 daltons was obtained using anti-herpes simplex type 1 (HSV-1) rabbit antiserum. Doublet bands at 36,000 and 37,000 daltons also appeared after reaction with HSV-1 seropositive human serum. The band at 31,000 daltons appeared after reaction with anti-HIV-1 rabbit serum. These results suggest that the platelet-associated antigens in this patient are components of both HSV-1 and HIV-1 antigens. In addition, acyclovir decreased his PAIgG level and increased his platelet count, and zidovudine increased his platelet count. Thus, we concluded that each of the platelet-associated antigens is partially responsible for the thrombocytopenia by causing deposition of immune complexes in this patient.
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PMID:Herpes simplex virus type 1 and human immunodeficiency virus type 1 antigens in platelets from a hemophilia B patient with human immunodeficiency virus type 1-related thrombocytopenia. 132 48

Intravenous human immunoglobulins (IVIG) are valuable in the treatment of several immunodeficiency and autoimmune diseases. The classic, well-known indications are primary hypogammaglobulinaemic conditions, immune thrombocytopenia and Kawasaki's syndrome. IVIG's content of specific antibodies toward a series of known, pathogenic microorganisms has led to the treatment of a number of infectious conditions and IVIG has a documented effect on AIDS in children, prophylactically in cases with potentially life-threatening CMV infections in certain types of transplants and prophylactically in hypogammaglobulinaemic patients with the most common variety of leukaemia, chronic lymphocytic leukaemia. Immunotherapy with IVIG in diseases of autoimmune character such as acute and chronic demyelinating neuropathy has recently shown promising results and encouraging reports have been published in the treatment of severe, steroid-dependent asthma, juvenile chronic arthritis and systemic vasculitis and dermatomyositis where IVIG possibly has a favourable immunomodulating effect on the patient's immune response. Future treatment will probably consist of polyvalent immunoglobulins as well as monoclonal or recombinant monovalent antibodies.
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PMID:[Clinical use of intravenous immunoglobulin IgG]. 133 93

The Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by eczema, thrombocytopenia, and profound immunodeficiency in affected males. While the etiology of the syndrome is currently unknown, abnormalities of CD43 have been described as a biochemical marker of the disease. Several investigators have demonstrated alterations in the expression of the CD43 surface antigen on WAS hematopoietic cells, noting either absence, decreased levels or changes in the characteristic molecular weight of the protein on the lymphocytes of affected patients. Biochemical studies have further indicated that glycosylating activity of specific enzymes which may post-translationally modify CD43 is altered in both T cells and Epstein-Barr-virus (EBV)-transformed B cells in WAS patients when compared to unaffected controls. Here we present data on cells derived from two males with a clinical diagnosis of WAS. Analysis of genomic DNA from the mothers of each of these patients (obligate carriers) showed a nonrandom X-chromosome inactivation pattern of nucleated blood cells, confirming the diagnosis of the X-linked syndrome. CD43 was characterized on peripheral blood lymphocytes and long-term EBV-transformed B cell lines, both to further analyze the molecular defects of WAS, as well as to attempt to generate a reproducible method for disease detection. Surprisingly, surface expression, molecular weight and two-dimensional gel analysis failed to demonstrated any reproducible differences in the CD43 expression, whether from disease or normal lymphocytes. Such results suggest possible heterogeneity of this syndrome.
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PMID:CD43 is expressed normally on Wiskott-Aldrich-derived lymphocytes. 133 89

Thrombocytopenia is a known complication of human immunodeficiency virus Type-1 (HIV-1) infection, and more data need to be collected on its frequency, severity, and clinical sequelae. We determined the frequency of thrombocytopenia and its relationship to other HIV infection characteristics from a review of records of 1004 HIV-infected patients attending two outpatient clinics in Washington, D.C. The self-reported sources of HIV-1 exposure were male homosexual activity (68%), bisexual activity (10%), heterosexual activity (6%), and intravenous drug use (15%). Fifty-nine percent of the individuals were white, 37% were black and 94% were male. Fifteen percent had AIDS. Thrombocytopenia occurred more frequently in subjects with AIDS (21.2%) than in HIV-infected individuals who did not fit clinical criteria for AIDS (9.2%) (p less than 0.001). Patients with few CD4-positive cells and an advanced stage of disease were more likely to have low platelet counts: 30% with an absolute CD4 cell count lower than 200/mm3 vs 8% with CD4 counts between 200 and 500 (p less than 0.00001), and 18.5% with Stage IV disease compared to 7.6% in Stage II (p less than 0.001) had platelet counts less than 150,000/mm3. Thrombocytopenia was more frequent in white males and older subjects. Although subjects infected by heterosexual exposure had a lower frequency of thrombocytopenia, intravenous drug users and homosexual men exhibited similar frequencies of thrombocytopenia. Of all subjects with platelet counts less than 50,000/mm3, 40% reported bleeding and 1 died of an intracranial hemorrhage. Thrombocytopenia occurs frequently in HIV-infected people, primarily in those with AIDS, low CD4 cell numbers, and advanced stages of diseases.
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PMID:Epidemiology of thrombocytopenia in HIV infection. 850 Jun 8


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