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)

Inherited deficiency of the purine salvage enzyme adenosine deaminase (ADA) is responsible for approximately half the cases of autosomal recessive Severe Combined Immunodeficiency (SCID). Deficiency of ADA can also result in a much later-onset, milder immunodeficiency, while lesser degrees of enzyme deficiency can result in either late-onset immunodeficiency or grossly normal immunologic function. The full clinical spectrum of ADA deficiency is currently being more fully defined. Florid pathology is primarily restricted to the immune system and appears to result from accumulation of substrates (adenosine and deoxyadenosine) and metabolites (deoxy ATP). Studies indicate that these metabolites may preferentially accumulate in lymphoid cells and can interfere with lymphoid proliferation and function. There is evidence for several mechanisms, including induction of chromosome breaks, inhibition of ribonucleotide reductase needed for normal DNA synthesis, and inactivation of SAH hydrolase needed for normal methylation reactions. The enzyme is a 40 Kd monomer that is ubiquitous, and diagnosis can be made with many cell types including erythrocytes, lymphocytes and fibroblasts. Prenatal diagnosis has been made with chorionic villous samples, amniotic cells and fetal blood. The gene for ADA resides on the long arm of human chromosome 20, and both the expressed and structural gene have been isolated and characterized. Most patients with ADA SCID have single base pair mutations resulting in amino acid substitutions, although a splicing mutation and a deletion have been described. The treatment of choice is currently bone-marrow transplantation from a histocompatible related donor, if available. Haploidentical transplants have also been successful but appear to have higher failure rates in ADA deficients than in other types of SCID. Enzyme replacement, now using an enzyme modified to increase the half-life and decrease immunogenicity, has been reported as successful but longer-term efficacy remains to be evaluated. The disorder, despite its rarity, is for several reasons considered a prime candidate for gene therapy. Recently success has been obtained in introducing the gene into lymphoid stem cells and achieving long-term expression.
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PMID:Adenosine deaminase deficiency. 207 32

Malnutrition is a frequent problem in persons infected with the human immunodeficiency virus. The origin of malnutrition in patients with AIDS may be multifactorial. The primary mechanisms include disorders of food intake, alterations in intermediary metabolism, and nutrient malabsorption. Attention to the problems of malnutrition in patients with AIDS is of paramount importance because the timing of death in these patients may be more closely related to degree of body cell mass depletion than to any specific underlying infection. Nutritional support can improve nutritional status in selected patients, and repletion of body cell mass may be associated with functional improvement. Early assessment, attention to nutritional requirements, and prompt intervention can minimize wasting and replete body cell mass. This article examines the evidence for malnutrition in patients with AIDS, reviews the studies of nutritional support, and presents an approach to the management of malnutrition in AIDS.
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PMID:Malnutrition in patients with AIDS. 212 39

Vaccine failure attributable to immunodeficiency is common in stressed individuals. During vitamin-B complex and ascorbic acid malnutrition in experimental animals, vaccine failure is accounted for by the atrophy of the immunocompetent organs. In an attempt to improve immunocompetence, a bioimmunomodulator obtained from the supernatant fluid from cultured normal bone-marrow cells was injected following immunization into young animals receiving a diet deficient in vitamins B and C. This treatment improved the immunosurveillence of mice and rats approximately 3 to 4 fold. Peculiarly, this factor failed to evoke immunostimulation in normal immunized animals, probably because of a suppressing mechanism.
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PMID:Vaccine failure in malnourished animals: use of a bioimmunomodulator to improve immunocompetence. 180 99

Deficiency of the purine metabolic enzyme adenosine deaminase causes severe immunodeficiency. Retroviruses have been reported to decrease the activity of adenosine deaminase, and many retroviruses, including feline leukemia virus, cause immunodeficiency. Levels of purine metabolic enzymes including adenosine deaminase and consequences of adenosine deaminase inhibition were investigated in feline leukemia virus-infected fresh tumor cells and infected and uninfected cell lines. No evidence of virus effect on levels of adenosine deaminase or other purine metabolic enzymes was detected. Neoplastic cells demonstrated considerable heterogeneity of activity levels of purine metabolic enzymes.
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PMID:Purine metabolism in feline lymphomas. 216 Nov 36

This review delineates the subcellular distribution, biochemical characteristics, and metabolic functions of 5'-nucleotidase (5'NT), summarizes the analytical biochemistry of 5'NT, and assesses the clinical significance of 5'NT determinations in body fluids, cells, and tissues. Salient aspects of the clinical biochemistry of 5'NT, discussed herein, are as follows: (A) Serum 5'NT activity is generally elevated in hepatobiliary diseases, especially with intrahepatic obstruction, but, unlike serum alkaline phosphatase, serum 5'NT activity is not increased in infancy, childhood, pregnancy, or osteoblastic disorders. (B) In cancer patients, elevated serum 5'NT activity does not always indicate hepatobiliary involvement; in some cases, 5'NT may be released into serum from the primary tumor or local metastases. (C) Genetic deficiency of erythrocyte pyrimidine 5'NT activity is a common cause of hereditary non-spherocytic hemolytic anemia. (D) Acquired deficiency of erythrocyte pyrimidine 5'NT activity occurs in patients with beta-thalassemia and lead poisoning. (E) 5'NT activity is low in circulating monocytes, increases markedly upon their differentiation to tissue macrophages, and subsequently diminishes during macrophage activation. (F) Lymphocyte ecto-5'NT activity, a plasma membrane marker of cell maturation, is generally low in immunodeficiency states, and undergoes characteristic changes in patients with certain lymphomas and leukemias.
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PMID:The clinical biochemistry of 5'-nucleotidase. 218 4

The technical developments in immunology and molecular biology during the 1970s, the growing use of organ transplantation during this period, and the abrupt emergence of AIDS in 1981 made the 1980s a fruitful period for investigating basic mechanisms of immunodeficiency. Now armed with powerful molecular biologic techniques, such as the polymerase chain reaction, we can identify specific genes and viruses that result in immunodeficiency. Complications associated with immunodeficiency, such as malignant lymphoma and opportunistic infections, have provided pathologists with opportunities for investigating the pathogenesis of this and other related diseases. An impetus for developing new diagnostic immunologic and molecular biological methods will be sustained during the 1990s. Pathologists working in the 21st century will be participants in the use of gene therapy for primary immunodeficiency diseases and for conquering AIDS. Perhaps with the declining threat of thermonuclear annihilation, we will tackle the largest cause of acquired immune deficiency, protein-calorie malnutrition.
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PMID:Current concepts of immunodeficiency disorders. 221 57

Secondary immunodeficiencies are much more frequent than primary immunological disorders. There are many etiologies, such as malnutrition, cytostatic drug therapy, burns, protein-losing conditions and infections. This review briefly considers the history of virus-induced immunosuppression. Today, measles and AIDS are the most important virus-induced immunodeficiency diseases. In rate instances, infections with Epstein-Barr virus can lead to hypogammaglobulinemia and B cell lymphomas. A viral etiology should always be considered in all cases of congenital and postnatally acquired immunological disorders.
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PMID:[Acquired immunodeficiency]. 222 49

One of the major clinical manifestations of the acquired immunodeficiency syndrome (AIDS) and AIDS-related complex (ARC) is the development of cachexia. This most likely results from a multifactorial interplay of poor diet, malabsorption, and altered metabolism. To assess the potential role of nutrient intake in the development or persistence of malnutrition, a detailed analysis was performed of a 72-hr diet record in clinically stable patients with AIDS (N = 18), ARC (N = 12) and in human immunodeficiency virus (HIV) seropositive controls without significant manifestations of disease (N = 13). Total calorie intake was 39.1 +/- 13.2 kcal/kg/day in AIDS patients vs 34.6 +/- 7.8 kcal/kg/day in ARC patients or 31.9 +/- 17.7 kcal/kg/day in HIV seropositive cases (all p = NS). Likewise, mean protein intakes were similar among the groups and exceeded recommended daily dietary allowance (RDA) guidelines. The mean body weight changes from the inception of illness were -11 +/- 1% in AIDS, -6 +/- 7% in ARC, vs +3 +/- 2% in HIV-seropositive-only cases (p less than 0.05 vs AIDS and ARC). Dietary vitamin and mineral analysis revealed that 88% of AIDS, 88% of HIV seropositive, and 89% of ARC patients were ingesting less than 50% RDA for at least one nutrient. The mean number of deficiencies per patient was 1.8 +/- 1.3 in AIDS, 3.8 +/- 3.5 in ARC, and 2.9 +/- 2.5 in HIV-seropositive-only cases (p less than 0.05 AIDS vs ARC). There were no significant correlations between specific anthropometric measurements and dietary intakes of protein or fat.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Dietary intake in patients with acquired immunodeficiency syndrome (AIDS), patients with AIDS-related complex, and serologically positive human immunodeficiency virus patients: correlations with nutritional status. 809 64

We investigated 24 completed pregnancies of 20 healthy, human immunodeficiency virus (HIV)-seropositive sex partners of 20 seropositive hemophilic men. One woman had recurrent herpes simplex type 2 infection; no woman was known to use illicit drugs or to have other purported cofactors for vertical HIV transmission. For 8 offspring, the mothers learned of their partners' serostatus and received counseling against pregnancy prior to the fifth month of gestation; for 9 offspring (37.5%), the mothers learned of their own seropositivity and received counseling prior to the fifth month. Acquired immunodeficiency syndrome developed in 7 (35%) of 20 fathers, 4 of whom died; HIV-related symptoms developed in 4; severe liver disease developed in 2; and 7 (35%) were in good health. In four mothers (20%) HIV-related symptoms developed. Five offspring were breast-fed for 2 days to more than 3 years, two while the mother was known to be seropositive; four of these were seronegative and healthy, and one was seropositive at 30 months of age and had persistent cervical lymphadenopathy at 48 months of age. Infants were born at term; median birth weight was 2.86 kg. Solely on the basis of serologic studies and symptoms for those with more than 15 months of follow-up, the minimum perinatal transmission rate for this group of women without putative transmission cofactors (drug usage, promiscuity, malnutrition, HIV symptoms) was at least 25%, a rate comparable to that reported for women in other risk groups.
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PMID:Pregnancies in human immunodeficiency virus-infected sex partners of hemophilic men. The Hemophilia-AIDS Collaborative Study Group. 232 14

Gastrointestinal disease in AIDS is common and is due to opportunistic infections, aggressive malignancy and possible direct HIV enteropathy. Disabling gastrointestinal symptoms are prominent both in patients with established AIDS and in patients with earlier stages of HIV infection. We report the cases of 160 patients with AIDS who underwent gastroenterological investigations at St Vincent's Hospital, Sydney, between November 1983 to October 1987. Of these, 127 had the diagnosis of AIDS established prior to referral and 33 patients had the diagnosis of AIDS established as a result of gastroenterological investigations. Diarrhoea and weight loss (88%) were the most frequent reasons for undertaking gastroenterological investigations. Swallowing disorders (47%), abdominal pain (20%), oral and perianal disease (74%) and evidence of hepatobiliary disease were the other major indications for investigation. In 90% of cases there was evidence of concurrent and active gastrointestinal disease at two or more sites within the alimentary tract. Results from this series reveal a wide range of infectious pathogens: viral (Cytomegalovirus, Herpes simplex), bacterial (Mycobacterium avium intracellulare) and parasitic (Cryptosporidium, Isospora belli). Kaposi's sarcoma and non-Hodgkin's lymphoma were the only malignancies detected in this series. Gastrointestinal disease associated with HIV infection is common, and contributes significantly to its overall morbidity and mortality. Moreover, chronic diarrhoea, weight loss and malnutrition may also contribute to the overall immunodeficiency.
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PMID:The gastrointestinal manifestations of AIDS. 234 18


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