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)

Since 1983, the Medical-Scientific Committee of the Fondazione dell'Emofilia has carried out annual national surveys of patients with hemophilia and other congenital bleeding disorders to evaluate the prevalence and characteristics of human immunodeficiency virus (HIV) infection and related diseases. Clinical syndromes related to HIV infection were already present in a number of Italian hemophiliacs in 1983, but the first cases of acquired immunodeficiency syndrome (AIDS) only occurred in 1984. Subsequently, AIDS cases roughly doubled each year to reach the number of 57 in 1987. In this year, 637 of 2,792 patients (23%) were found to be anti-HIV-positive. The highest prevalence of seropositivity was found in hemophilia B patients (138 of 313, 44%), followed by hemophilia A (476 of 1,658, 29%), von Willebrand's disease (23 of 650, 4%) and other congenital bleeding disorders (2 of 171, 1%). Only 3 cases of seroconversions were observed since 1986, following the nationwide adoption of heat-treated concentrates. The differences in the prevalence of HIV infection between hemophiliacs from Italy and other European countries are discussed.
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PMID:National survey of human immunodeficiency virus infection in Italian hemophiliacs: 1983-1987. The Medical-Scientific Committee of the Fondazione dell'Emofilia. 315 Jan 22

A 42-year-old patient with hemophilia A developed acute left hypochondrial pain 8 days postnephrolithotomy. A colloidal scan indicated multiple hematomas, and conservative management was given. Postoperatively, recurrent discomfort necessitated splenectomy. Multiple space-occupying lesions were found, and the histology was that of a large, noncleaved lymphoma. Contiguous spread outside of the capsule was evident, but abdominal nodes and liver appeared normal. Chemotherapy was administered, with evidence of tumor response, but refractoriness supervened, and the patient died 4 months after the diagnosis. Space-occupying lesions in a hemophiliac are generally ascribed to hematomas. The exposure of this population to the human immunodeficiency virus (HIV) should raise the consideration of a non-Hodgkin lymphoma in any situation where rapid clinical resolution of a hematoma is not occurring.
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PMID:Intrasplenic lymphoma resembling multiple hematomas in a hemophiliac. 340 37

As morbidity of thrombopenia in hemophilia A patients is increasing, the pathogenetic influence of the reticuloendothelial system (RES) was measured using autologous anti-Rh0(D)-coated erythrocytes (EA) in 17 patients with or without thrombopenia. Mean survival of EA in patients was reduced to 53% of healthy controls (53.2 +/- 46.1 min vs 100.5 +/- 12.2 min; patients vs controls, mean +/- S.D.). Survival of EA was not significantly different either in thrombopenic vs non-thrombopenic nor anti-HIV (human immunodeficiency virus) positive vs negative patients. Thrombopenia, elevated serum IgG and circulating immune complexes were related to the presence of anti-HIV antibodies. EA survival was also decreased in the absence of anti-HIV antibodies. This indicates activation of RES by a mechanism different from retroviral infection by HIV (1).
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PMID:FcR-mediated clearance in thrombopenic and non-thrombopenic patients with hemophilia A and possible relation of thrombopenia to HIV seropositivity. 348 Feb 39

This report describes the first two Japanese cases of AIDS developed in patients with hemophilia. One was a 48-year-old man with hemophilia B and the other was a 62-year-old patient with hemophilia A. They had nonspecific prodromal syndromes of AIDS initially, and later developed fatal opportunistic infections with Candida or atypical mycobacteriosis and Aspergillosis. They had marked cellular immunodeficiency, and antibodies to HTLV-III. Subsequently, three more cases of AIDS in hemophiliacs have been reported in Japan. Because most of the clotting factor concentrates for treatment of hemophilia are imported from the United States and European countries, hemophiliac patients in Japan are also at high risk for AIDS.
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PMID:Occurrence of AIDS in hemophiliacs in Japan. 407 Oct 60

We evaluated 37 patients with moderate or severe hemophilia A and six patients with severe factor IX deficiency for clinical or laboratory evidence of immune abnormalities. Patients were assigned to one of four groups according to the type of clotting factor replacement. Twenty patients had received only cryoprecipitate during the two years preceding the evaluation (group I); 11 additional patients were treated predominantly with cryoprecipitate but had also received up to nine bottles of factor VIII concentrate (group II); six patients received factor VIII concentrate (group III); six patients received factor IX concentrate (group IV). There was no clinical or laboratory evidence of immunodeficiency among the 43 patients. The mean absolute number of Th cells was normal in all patient groups, but the mean absolute number of Ts cells was increased compared with controls, both in patients treated with cryoprecipitate and in patients treated with factor VIII or factor IX concentrate. There was no correlation between the Th/Ts ratio and patient age, alanine aminotransferase level, hepatitis serology, in vitro lymphocyte function, or amount of clotting factor administered. Our observations demonstrate that the volunteer or commercial origin of clotting factor replacement cannot fully explain the alterations in lymphocyte subset distribution previously described in patients with hemophilia A.
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PMID:Immunologic status of hemophilia patients treated with cryoprecipitate or lyophilized concentrate. 623 71

To assess the immunologic status of healthy persons with hemophilia A, we performed studies of T cell immunity in 21 patients, 10 given only cryoprecipitate and 11 given factor VIII concentrate. Patients in the factor VIII group had significantly decreased helper/suppressor T cell ratios. Both groups had diminished mononuclear cell response to phytohemagglutinin and normal mixed lymphocyte culture, compared with controls. Abnormalities in T cell number or function did not correlate with the presence of antibody to cytomegalovirus, Epstein-Barr virus, or hepatitis B. Physicians caring for patients with hemophilia A should realize that asymptomatic individuals may have early evidence of immunodeficiency.
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PMID:Immunologic abnormalities in patients with hemophilia A. 641 59

A 28-year-old hemophilia A patient was admitted to our hospital in July, 1991 because of high fever, chronic diarrhea and anemia. The patient had been recognized as a asymptomatic carrier of human immunodeficiency virus (HIV) in 1985 and had developed Pneumocystis carinii pneumonia and had been diagnosed as acquired immunodeficiency syndrome (AIDS) in 1990. Hematologic laboratory examinations on admission revealed pancytopenia and a CD4+ cell count of 3/mm3. X-ray findings of chest and abdomen were normal and bacterial cultures of sputum, urine, blood, stool, cerebrospinal fluid and bone marrow yielded no pathogenic microorganisms. Microscopical examination of the stained specimens showed no acid-fast bacilli. On his fifth hospital day, his liver and spleen enlarged markedly and an abdominal CT scan obtained on the 13th day revealed high-grade hepatosplenomegaly. Administration of several kinds of antibiotics, antifungal agents, antiviral agents, antituberculous agents and gamma-globulin medicines did not relieve the symptoms. On the 28th day the patient had developed a subarachnoid hemorrhage and died five days later. Retrospectively all cultures for acid-fast bacilli of the specimens on his admission yielded nontuberculous mycobacteria. The bacteria were identified as Mycobacterium avium by polymerase chain reaction and his disease was eventually diagnosed as disseminated Mycobacterium avium complex (MAC) infection. The liver and spleen weighed 2,660 g and 1,840 g respectively at autopsy. Although hepatosplenomegaly is commonly recognized in AIDS patients with disseminated MAC infection, such massive and rapid enlargement has been rarely observed. This case study emphasize the importance of diagnosis and rapid treatment at the early stage of MAC infection.
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PMID:[Massive and progressive hepatosplenomegaly caused by disseminated nontuberculous mycobacteriosis in a patient with acquired immunodeficiency syndrome]. 756 51

Hemophilia A and B patients seen at nine US regional treatment centers were tested for serologic markers of hepatitis B virus (HBV), hepatitis C virus (HCV), and hepatitis delta virus (HDV) during 1987 and 1988. Because human immunodeficiency virus (HIV) infection, a potentially confounding variable, was present in 53% of the group, the population was divided by HIV status for analysis purposes. In the HIV-positive group (N = 382), less than 1% had not been infected with HBV, HCV, or HDV, whereas 75% had evidence of infection with HBV and 98% with HCV. HBsAg, a marker of active HBV infection, was present in 12% of subjects; 96% of these were HCV positive. Anti-HDV was detected in 35 subjects (9.1%); all were anti-HBc positive. Ten of the 35 (29%) also were positive for IgM anti-HDV, indicating current infection. All 10 were HBsAg positive and 7 of the 9 tested were HDV RNA positive. Severe/moderate hemophilia B patients were more likely to have experienced an HBV infection and to be anti-HDV positive than were similar hemophilia A patients (22% v 8%, P < .05). In the HIV-negative group (N = 345), the subjects were younger and had less severe hemophilia than the HIV-positive patients. No evidence of HBV, HCV, or HDV infection was found in 18%, whereas 33% had experienced HBV infection and 79% were anti-HCV positive. Within this group, 4% were HBsAg positive. All 13 subjects with anti-HDV (4% of the HIV-negative group) also possessed anti-HBc. One (7.7%) was IgM anti-HDV positive and the serum from another contained HDV RNA. Both of these individuals were HBsAg positive. As in the HIV-positive group, severe/moderate hemophilia B patients were more likely to be HBV and HDV positive than were hemophilia A patients (9% v 3%, P < .05). A prevalence study of viral hepatitis in a large US hemophilic population showed that active infection with HCV is common, occurring in 89% of all study patients regardless of HIV status. Evidence of active HBV infection was found in 8%; 19% of these were actively infected with HDV. HDV was more common in hemophilia B patients after controlling for disease severity.
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PMID:A multicenter study of viral hepatitis in a United States hemophilic population. 767 17

Hemophilia A is caused by a deficiency of factor-VIII procoagulant (fVIII) activity. The current treatment by frequent infusions of plasma-derived fVIII concentrates is very effective but has the risk of transmittance of blood-borne viruses (human immunodeficiency virus [HIV], hepatitis viruses). Use of recombinant DNA-derived fVIII as well as gene therapy could make hemophilia treatment independent of blood-derived products. So far, the problematic production of the fVIII protein and the low titers of the fVIII retrovirus stocks have prevented preclinical trials of gene therapy for hemophilia A in large-animal models. We have initiated a study of the mechanisms that oppose efficient fVIII synthesis. We have established that fVIII cDNA contains sequences that dominantly inhibit its own expression from retroviral as well as from plasmid vectors. The inhibition is not caused by instability of the fVIII mRNA (t1/2, > or = 6 hours) but rather to repression at the level of transcription. A 305-bp fragment is identified that is involved in but not sufficient for repression. This fragment does not overlap the region recently identified by Lynch et al (Hum Gene Ther 4:259, 1993) as a dominant inhibitor of RNA accumulation. The repression is mediated by a cellular factor (or factors) and is independent of the orientation of the element in the transcription unit, giving the repressor element the hallmarks of a transcriptional silencer.
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PMID:Expression of the blood-clotting factor-VIII cDNA is repressed by a transcriptional silencer located in its coding region. 772 75

Clinical cure of hemophilia A by orthotopic liver transplantation has been reported in 11 cases. We describe the first successful Italian case. A 27-year-old man had cirrhosis caused by previous infections with the hepatitis B, C and D viruses following life-long treatment with factor VIII concentrates made from large plasma pools. He was, however, seronegative for the human immunodeficiency virus. In the year before transplantation, life-threatening gastrointestinal bleeding due to severe esophageal varices required a large transfusion regimen (on average, 13 bags of red cell concentrates and 35,000 U of factor VIII/week). To perform orthotopic liver transplantation 8,000 U of factor VIII were given during surgery together with 10 bags of red cells and 11 of fresh-frozen plasma. Intraoperative bleeding was not different from that of non-hemophilic patients undergoing orthotopic liver transplantation. No additional factor VIII was used after transplantation and factor VIII levels in plasma were always above 50 U/dl, reaching the highest value of 184 U/dl on day 4 post transplantation. He was discharged from hospital 10 weeks after transplantation with factor VIII levels of 68 U/dl. All virological markers are currently negative, except anti-hepatitis C virus antibodies. In this patient orthotopic liver transplantation was a life-saving treatment for end-stage cirrhosis and a cure for hemophilia A.
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PMID:Orthotopic liver transplantation in a patient with severe hemophilia A: a life-saving treatment for the first Italian case. 778 10


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