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)

The maturing reticulocyte degrades ribosomal RNA to constituent ribonucleoside phosphates. Guanosine ribonucleotides are retained only in small amounts and pyrimidine ribonucleotides only in trace quantities. In the mature erythrocyte more than 97% of total nucleotides are the interconvertible adenosine mono-, di-, and triphosphates. High energy ATP fuels most of the reactions required to sustain viability. Unable to synthesize adenosine phosphates from small precursor molecules, the red cell relies on certain salvage pathways to replenish its losses from the adenosine phosphate pool. The most important of these involve adenosine. Adenylate kinase deficiency, when severe, is associated with nonspherocytic hemolytic anemia. A genetically-determined deficiency of pyrimidine 5'-nucleotidase prevents the normal dephosphorylation of pyrimidine ribonucleotides, and hence is characterized by the unique accumulation of pyrimidine phosphates intracellularly. Other features are chronic hemolytic anemia, splenomegaly, and a profound increase in basophilic stippling on the stained blood film. The syndrome is transmitted as an autosomal recessive disorder. A similar syndrome is found in severe lead poisoning as a consequence of nucleotidase inhibition by lead. An inherited, dominantly transmitted hemolytic anemia associated with low red cell ATP and a 45-70 fold increase in the enzymatic activity of adenosine deaminase has also been documented. The undefined molecular lesion appears to involve overproduction of an entirely normal enzyme protein. Severe deficiency of either of two sequential enzymes of purine metabolism, adenosine deaminase anemia, but by excessive accumulations of deoxyribonucleotides within red cells and lymphocytes. The clinical counterpart of each is a severe immunodeficiency state secondary to lymphopenia and lymphocyte dysfunction. Certain other rare clinical syndromes involving disturbed nucleotide metabolism also are detectable by red cell assay procedures.
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PMID:Erythrocyte disorders of purine and pyrimidine metabolism. 625 19

In this report, we present a 5 months old male baby, who suffered from watery diarrhea since 4 days old. From then on, he had been admitted 3 times in 3 different hospitals but the symptoms still bothered him off and on. During the days of hospitalization, sepsis with positive blood culture of Klebsiella was noted. The patient expired at 5 months of age. The T cell count was 20% active T was 0. Delayed hypersensitivity skin tests including Candida (10 X), PHA (10 micrograms), PHA (1 microgram), SK/SD (50 units) were negative. The granulocyte function study showed normal. Immunoglobulin analysis revealed IgG: 1320 mg%, IgA: 120 mg%, IgM: 100 mg%. Agenesis of thymus, failure of lymphoid differentiation and abnormal lymphoid architecture with absence of germinal centers were noted at autopsy. Combined immunodeficiency with normal immunoglobulins (Nezelof syndrome) is a disease of primary immunodeficiency characterized by recurrent infections, failure to thrive, lymphopenia, diminished lymphoid tissue, abnormal structure or agenesis of the thymus, and presence of normal or increased levels of one or more of the major immunoglobulin classes, but with impaired antibody synthesis. Since its original description by Nezelof and associates in 1964, it has been reported on the subsequent occasion. In this report, we present our one experience and review the clinical and laboratory data in 33 reported cases.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1980 Mar
PMID:Report of a case of Nezelof syndrome. 744 23

Although combined therapy with interferon-alpha and zidovudine may be safely administered to some patients with the acquired immunodeficiency syndrome (AIDS) and Kaposi sarcoma, no ethnic Chinese patient has been successfully treated before in this area. This case report concerns a 47-year-old male with a history of bisexuality who had suffered from oral ulcers for half a year, Human immunodeficiency virus (HIV) serology was positive, and pathology of the oral ulcers disclosed Kaposi sarcoma. Combination therapy with zidovudine and interferon-alpha was initiated. The patient received a low-dose regimen of 5.0 million U interferon-alpha s.c. per day for 8 weeks and 5 million U twice a week for another 8 weeks. The oral ulcers faded away without recurrence. This report also reviews the literatures on treatment of AIDS-related Kaposi sarcoma with interferon.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1993 Feb
PMID:Successful treatment of Kaposi's sarcoma with interferon-alpha in a patient with acquired immunodeficiency syndrome. 790 42

In an earlier study on minus-strand DNA synthesis catalyzed by murine leukemia virus reverse transcriptase, we described a prominent pause site near the polypurine tract (J. Guo, W. Wu, Z. Y. Yuan, K. Post, R. J. Crouch, and J. G . Levin, Biochemistry 34:5018-5029, 1995). We now report that pausing at this site is due to a stem-loop structure in the RNA template, formed by interaction of a number of bases in the polypurine tract, including the six G's, and a 3' sequence which includes four C's. Addition of human immunodeficiency virus type 1 (HIV-1) nucleocapsid (NC) protein to reverse transcriptase reactions reduces pausing by approximately 8- to 10-fold and stimulates synthesis of full-length DNA. Thus, NC functions as an accessory protein during elongation of minus-strand DNA and increases the efficiency of DNA synthesis, in this case, by apparently destabilizing a region of secondary structure in the template. Since NC is associated with genomic RNA in the viral core and is likely to be part of a viral replication complex, these results suggest that NC may also promote efficient DNA synthesis during virus replication. Mutational analysis indicates that the features of HIV-1 NC which are important for reduction of pausing include the basic amino acids flanking the first zinc finger, the zinc fingers, and the cysteine and aromatic amino acids within the fingers. These findings suggest that reverse transcription might be targeted by drugs which inactivate the zinc fingers of HIV-1 NC.
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PMID:Human immunodeficiency virus type 1 nucleocapsid protein reduces reverse transcriptase pausing at a secondary structure near the murine leukemia virus polypurine tract. 879 60

The report describes a premature infant with necrotizing enterocolitis who developed symptoms of zinc (Zn) deficiency after three to four weeks of total parenteral nutrition (TPN). Clinical presentations included characteristic skin rash, alopecia, retarded growth, generalized edema and decreased serum alkaline phosphatase (ALP). Immune function studies revealed impaired neutrophil adhesion and mitogen-induced lymphoproliferation, whereas phagocytosis, chemotaxis and lymphocyte subsets remained normal. A high dose of elemental Zn (2.5 mg/kg/day), administered orally, improved the clinical symptoms and restored the immune function. In patients with Zn deficiency, impaired neutrophil adhesion and lymphocyte function may contribute to immunodeficiency which can be reversed with adequate Zn supplementation.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Impaired immune function in a premature infant with zinc deficiency after total parenteral nutrition. 894 22

The seroprevalence of human immunodeficiency virus (HIV) infection in Guinea-Bissau, West Africa, was determined by enzyme-linked immunosorbent assay (ELISA). From January 1987 to February 1993, 590 patients from the outpatient and inpatient departments of Regional Hospital at Canchungo, Cacheu, Guinea-Bissau were studied. The overall seropositive rate was 16%. Patients in the age between 25 and 54 accounted for 78% of HIV-positive cases. The seropositive rate according to the diagnosis was: 6% in pregnant women, 40% in patients with gonorrhea/syphilis, 14% in patients with vaginitis and 22% in patients with active pulmonary tuberculosis. The seropositivity for HIV-1/2 in the pregnant women might reflect the seroprevalence in general population of Guinea-Bissau. Accordingly, the estimated population infected by HIV would be sixty thousands in Guinea-Bissau. Both sexually-transmitted diseases and tuberculosis were the risk factors for HIV infection. This study shows that HIV infection is a critical problem of public health in Guinea-Bissau. Strategies to prevent the seeding of HIV are of great importance. Moreover, the members of medical mission from our country must keep alert for preventing HIV infection.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1994 May
PMID:[Seroprevalence of human immunodeficiency virus infection in Guinea-Bissau, west Africa]. 974 39

To describe the spectrum of epidemiological and major clinical manifestations of patients infected by human immunodeficiency virus type 1 (HIV-1) in a municipal hospital, a retrospective review was done of 53 HIV-1-infected patients who had been admitted to Taipei Municipal Jen-Ai Hospital between January 1990, and July 1996. The majority (94.3%) of the patients in the cohort were male. Peak incidence was found in the fourth decade (28.3%). Forty-four (83%) patients presented in the first hospital stay with acquired immunodeficiency syndrome (AIDS). The mean duration between establishment of diagnosis of HIV-1 infection and that of AIDS was 11.2 (0-84) months. Heterosexual transmission accounted for 54.7% of the infections in the study group, and bi-/homosexual men made up another 32%. Psychosis of new onset was noted in two patients. In all AIDS indicator conditions, Pneumocystis carinii pneumonia (PCP) was the leading opportunistic infection among AIDS patients. PCP was also on the top of initial manifestations of HIV-1 infection. One patient with Penicillium marneffei infection was diagnosed to have AIDS. The mean CD4 count at admission of AIDS patients was much lower than that of non-AIDS patients (32 vs. 297/microliter, p < 0.0005). During the follow-up period 24 of 53 patients died. Mean survival time of 23 expired patients after establishment of diagnosis of AIDS was 6.4 (0-29) months. The results indicated that males outnumbered females greatly in the number of cases. Sexual activity remained the most important route of infection. Psychosis of new onset may be an early manifestation of HIV-associated encephalopathy and requires more attention. In addition, the outcome was poor as most patients in this area did not become aware of risk of HIV-1 infection until they were seriously illed with full-blown AIDS that they would seek medical help. PCP was the most common incentive for medical consultation. Penicillium marneffei infection is endemic in southeast Asia, and should be classified as an AIDS indicator condition in Taiwan.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1997 May
PMID:Clinical experience of HIV/AIDS in a municipal hospital in Taiwan. 1059 14

Polymerase chain reaction and nucleotide sequence analysis were performed to amplify and determine the V3 loop sequences of human immunodeficiency virus type 1 (HIV-1) from ten seropositive patients at National Cheng Kung University Hospital, Tainan. The nucleotide sequences and the deduced amino acid (a. a.) sequences of these V3 regions were compared with those of known HIV-1 prototypes. The V3 loop a. a. sequences detected in eight individuals belong to subtype B which predominates in North America and Europe, whereas two individuals were infected with HIV-1 subtype E which is mainly found in the heterosexual populations of Thailand. Sequence analysis of these variant HIV-1 strains revealed a number of interesting features and a phylogenetic tree was also constructed according to the V3 loop nucleotide sequences of these variant strains and HIV-1 isolates from other parts of the world. Furthermore, our results suggest that the north vs south geographical separation in terms of HIV-1 epidemiology in Taiwan is insignificant.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1997 May
PMID:Molecular subtyping of the HIV-1 V3 loop sequences detected in HIV-1-positive patients in southern Taiwan. 1059 16

We have described an oligomeric gp140 envelope glycoprotein from human immunodeficiency virus type 1 that is stabilized by an intermolecular disulfide bond between gp120 and the gp41 ectodomain, termed SOS gp140 (J. M. Binley, R. W. Sanders, B. Clas, N. Schuelke, A. Master, Y. Guo, F. Kajumo, D. J. Anselma, P. J. Maddon, W. C. Olson, and J. P. Moore, J. Virol. 74:627-643, 2000). In this protein, the protease cleavage site between gp120 and gp41 is fully utilized. Here we report the characterization of gp140 variants that have deletions in the first, second, and/or third variable loop (V1, V2, and V3 loops). The SOS disulfide bond formed efficiently in gp140s containing a single loop deletion or a combination deletion of the V1 and V2 loops. However, deletion of all three variable loops prevented formation of the SOS disulfide bond. Some variable-loop-deleted gp140s were not fully processed to their gp120 and gp41 constituents even when the furin protease was cotransfected. The exposure of the gp120-gp41 cleavage site is probably affected in these proteins, even though the disabling change is in a region of gp120 distal from the cleavage site. Antigenic characterization of the variable-loop-deleted SOS gp140 proteins revealed that deletion of the variable loops uncovers cryptic, conserved neutralization epitopes near the coreceptor-binding site on gp120. These modified, disulfide-stabilized glycoproteins might be useful as immunogens.
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PMID:Variable-loop-deleted variants of the human immunodeficiency virus type 1 envelope glycoprotein can be stabilized by an intermolecular disulfide bond between the gp120 and gp41 subunits. 1079 83

We previously described a human immunodeficiency virus type 1 (HIV-1) envelope mutant that introduces a disulfide bridge between the gp120 surface proteins and gp41 transmembrane proteins (J. M. Binley, R. W. Sanders, B. Clas, N. Schuelke, A. Master, Y. Guo, F. Kajumo, D. J. Anselma, P. J. Maddon, W. C. Olson, and J. P. Moore, J. Virol. 74:627-643, 2000). Here we produced pseudovirions bearing the mutant envelope and a reporter gene to examine the mutant's infectious properties. These pseudovirions attach to cells expressing CD4 and coreceptor but infect only when triggered with reducing agent, implying that gp120-gp41 dissociation is necessary for infection. Further studies suggested that virus entry was arrested after CD4 and coreceptor engagement. By measuring the activities of various entry inhibitors against the arrested intermediate, we found that gp120-targeting inhibitors typically act prior to virus attachment, whereas gp41 inhibitors are able to act postattachment. Unexpectedly, a significant fraction of antibodies in HIV-1-positive sera neutralized virus postattachment, suggesting that downstream fusion events and structures figure prominently in the host immune response. Overall, this disulfide-shackled virus is a unique tool with potential utility in vaccine design, drug discovery, and elucidation of the HIV-1 entry process.
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PMID:Redox-triggered infection by disulfide-shackled human immunodeficiency virus type 1 pseudovirions. 1271 60


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