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)

Thorotrast, a colloidal suspension of 252Th dioxide, was widely used as a radiographic contrast medium for more than 25 y after its clinical practice introduction in 1930. Its excellence as a contrast medium was ultimately eclipsed by its long-term associated morbidities, and its use essentially ended by 1954. This case history presents the clinical events in the last 10 y of life in a patient injected with Thorotrast in 1953. This patient developed three previously described Thorotrast-associated morbidities: pneumococcus sepsis due to functional asplenia and reticuloendothelial system blockade, an enlarging Thorotrastoma (inflammatory mass) at the injection site, and a fatal blood dyscrasia. In addition, she developed three clinical syndromes where a Thorotrast association may exist. She suffered from severe spinal column osteoarthritis and vertebral collapse. An abnormal bone-density measurement implies the presence of radiodense radioactive thorium or its degradation products as potentially responsible. She had evidence of chronic immune system disregulation with immunoglobulin excess, auto antibodies, and cell-mediated immunity deficiency. This condition is similar to that found in patients infected with human immunodeficiency virus and may suggest a shared etiology in reticuloendothelial system damage. Lastly, she developed dense bilateral cataracts. This case history illustrates the temporal relationship of a variety of symptoms. Discussion is directed at review of previous data and support for new associations.
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PMID:Clinical consequences of Thorotrast in a long-term survivor. 152 4

We herein describe the first French case of successful bone marrow transplantation (BMT) in a patient with the Wiskott-Aldrich syndrome. Although the patient required hospitalization for a total of one year during his first 4 years of life for bleeding, eczema, protracted diarrhea and multiple infections, the bone marrow transplantation has permitted a complete and stable correction of the thrombocytopenia, the eczema and the immunodeficiency. The patient was prepared by a total body irradiation (850 rads) with a partial lung shielding and anti-lymphocyte globulins. The BMT was immediately followed by a severe but transient herpetic infection and acute graft versus host reaction (grade II) which resolved after steroid therapy. The thrombocytopenia disappeared 3 months after the BMT. The infections and the eczema did not reappear. Immune functions are entirely normal and all blood cells have been shown to be of donor origin (the sister of the recipient). The boy is growing normally and is doing well 3 1/2 years thereafter. He only suffered from bilateral cataracts secondary to the irradiation requiring lens extraction. One can now expect a success rate of 75% in bone marrow transplantation in patients with Wiskott-Aldrich syndrome as evaluated from a world review. In contrast, symptomatic treatment of the disease leads to a mean survival of 7 years, survival rarely exceeding 18 years.
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PMID:[Treatment of the Wiskott-Aldrich syndrome by a graft of allogeneic bone marrow]. 639 14

Several lines of transgenic mice were generated with either active or inactive forms of the human immunodeficiency virus type 1 (HIV-1) protease gene under the control of the mouse lens alpha A-crystallin promoter. Mice bearing the inactive protease coding sequence displayed no gross abnormalities in the lens, while mice with the active protease developed time-dependent bilateral cataracts. One line, TG61, developed cataracts in utero while the second line, TG72, developed cataracts postnatally. TG61 mice, homozygous for the transgene, developed severe microphthalmia and were significantly smaller than the control mice at postnatal day 30. two-dimensional-polyacrylamide gel electrophoresis analysis of the protein profiles of TG72 and TG61 lenses revealed extensive modifications in the lens crystallins. Proteolysis in the homozygous TG72 mouse lenses began at postnatal day 20 with the disappearance or partial loss of beta B1-, beta B3-, and beta A3-crystallins and the appearance of crystallin fragments. Protein leakage and the gradual breakdown of cytoskeletal elements also occurred. In contrast, the opacification of the homozygous TG61 lenses appeared to have been influenced by differentiation and developmental processes. It appears that HIV-1 protease expression activates other proteases, and these enzymes, in concert with HIV-1 protease, are responsible for the protein modifications that eventually result in the opacification of the lens.
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PMID:Cataractogenesis in transgenic mice containing the HIV-1 protease linked to the lens alpha A-crystallin promoter. 855 May 98

The transmission of human immunodeficiency virus (HIV) through transplantation of human tissues and organs is rare but not impossible. A 27-year-old Bulgarian woman received a kidney transplant from a cadaveric donor owing to chronic renal failure due to glomerulonephritis of unknown etiology. Five days after the donation, the tissues showed HIV-1 infection, so she was immediately initiated on highly active antiretroviral therapy (HAART) with lopinavir/ritonavir, zidovudine, enfuvirtide, and lamivudine. Subsequently, according to the genotypic test which revealed a complex resistance pattern of the HIV-1, we changed the regimen to darunavir/ritonavir, etravirine, lamivudine, and enfuvirtide. The HIV-1 genome (550 UI/mL), which was detected at 5 days after transplantation, rapidly declined to undetectable levels at 3 weeks after HAART. The CD4+ T-cell nadir was 432 cells/microL (40%) to 1,400 cells/microL after 2 years. The posttransplantation course was complicated by cytomegalovirus pneumonia. At 32 months after transplantation, the patient had experienced hypertension with secondary retinopathy, bilateral cataracts, diabetes, hypothyroidism, osteoporosis with multiple vertebral fractures, a hip prosthesis, and a bone infarction of the femur. Major management problems had been related to steroid and HAART treatment side effects. Therapeutic interactions between the immunosuppressants and the antiretroviral drugs were complex for management, requiring frequent checks of drug levels and dose-adjustments. We finally obtained a stable clinical and viroimmunologic condition. The transmission of multiresistant strains of HIV from unknown patients requires complex multidisciplinary management.
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PMID:Case report: HIV infection from a kidney transplant. 2069 60