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)

Cerebrospinal fluid (CSF) cytology, white blood cell (WBC) count and protein were evaluated in 32 human immunodeficiency virus (HIV)-infected patients with the acquired immune deficiency syndrome (AIDS) or an AIDS-related complex who manifested a variety of neurologic symptoms. Of 17 patients with AIDS-related encephalitis (ARE), 13 had hypocellular CSFs; elevated WBCs and pleocytosis were noted in 4, multinucleated giant cells in 2 and elevated CSF protein was found in 4 of 8 specimens tested. Three patients with central nervous system (CNS) toxoplasmosis had unremarkable CSF cytology findings, but all had elevated CSF proteins. In five patients with cryptococcal meningitis, cytologic examinations demonstrated organisms in four and elevated proteins in three. Of five patients with primary CNS lymphomas, one had cytology positive for large cell lymphoma; two showed suspicious cells and two manifested "atypical lymphocytes." Elevated CSF protein was present in four. Other conditions observed included progressive multifocal leukoencephalopathy, tubercular meningitis and cytomegaloviral (CMV) meningitis or encephalitis. Twenty-five percent of patients with ARE manifested pleocytosis with multinucleated giant cells; pleocytosis with CMV inclusions was noted in a CMV viral radiculitis. The CSF cytologic examination in HIV-infected patients with neurologic complications seems helpful in diagnosing cryptococcal meningitis and lymphoma, but less so for diagnosing toxoplasmosis.
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PMID:Cerebrospinal fluid manifestations of the neurologic complications of human immunodeficiency virus infection. 253 86

The acquired immunodeficiency syndrome (AIDS) is caused by human immunodeficiency virus (HIV) and characterized by disorders of the nervous system in addition to opportunistic infection and cancer. Centers for Disease Control (CDC) recommend the classification system consisting of four major groups. Group I is patients with acute HIV infection, and Group II is asymptomatic carriers. Group III is those with persistent generalized lymphadenopathy (PGL). Group IV includes five subgroups: IVA with constitutional disease, IVB with neurologic disease, IVC with secondary infectious diseases, IVD with secondary cancers and IVE with other conditions. The nervous system disorders are classified into two types: one is produced by HIV itself and not directly related to immunodeficiency, and the other caused by opportunistic infectious agents and cancers. The former is further divided into two kinds: atypical aseptic meningitis and acute inflammatory demyelinating polyneuropathy (AIDP) occur mainly in Group I and II, whereas HIV encephalopathy, distal symmetric polyneuropathy (DSPN) and vacuolar myelopathy in Group III and IV. Group I or II patients have no apparent medical problems. Therefore, when neurologists see patients with risk factors for HIV infection presenting with atypical meningitis or AIDP, it is of utmost importance to have a high index of suspicion and to look for evidence of HIV infection.
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PMID:[Disorders of the nervous system associated with the acquired immunodeficiency syndrome (AIDS)-clinical approach]. 263 Jan 48

A number of viruses cause acute central nervous system disease. The two major clinical presentations are aseptic meningitis and the less common meningoencephalitis. Clinical virology laboratories are now more widely available than a decade ago; they can be operated on a modest scale and can be tailored to the needs of the patients they serve. Most laboratories can provide diagnostic information on diseases caused by enteroviruses, herpesviruses, and human immunodeficiency virus. Antiviral therapy for herpes simplex virus is now available. By providing a rapid diagnostic test or isolation of the virus or both, the virology laboratory plays a direct role in guiding antiviral therapy for patients with herpes simplex encephalitis. Although there is no specific drug available for enteroviruses, attention needs to be paid to these viruses since they are the most common cause of nonbacterial meningitis and the most common pathogens causing hospitalization for suspected sepsis in young infants in the United States during the warm months of the year. When the virology laboratory maximizes the speed of viral detection or isolation, it can make a significant impact on management of these patients. Early viral diagnosis benefits patients with enteroviral meningitis, most of whom are hospitalized and treated for bacterial sepsis or meningitis or both; these patients have the advantage of early withdrawal of antibiotics and intravenous therapy, early hospital discharge, and avoidance of the risks and costs of unnecessary tests and treatment. Enteroviral infection in young infants also is a risk factor for possible long-term sequelae. For compromised patients, the diagnostic information helps in selecting specific immunoglobulin therapy. Good communication between the physician and the laboratory will result in the most benefit to patients with central nervous system viral infection.
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PMID:Role of the virology laboratory in diagnosis and management of patients with central nervous system disease. 264 21

About 120,000 infants are born each year with sickle cell disease (SCD) in Africa. The majority have Hb SS, but Hb SC and Hb S/beta+ thalassaemia are common in west Africa. The development of Plasmodium falciparum and P. malariae is partially inhibited in the Hb SS red cells, but malaria precipitates both haemolytic and infarctive crises, and is the commonest and most important cause of morbidity and mortality. The pneumococcus is likely to be the second major infectious cause of sickness and death. In one rural community, there were less than 2% of the expected number of subjects with SCD surviving beyond 5 years of age. Genetic factors improving prognosis include (1) the Senegal beta chain haplotype, which is linked to a high level of Hb F, and (2) alpha+ thalassaemia. Of environmental factors improving prognosis, the family is of first importance. The commonest age of presentation is 1-3 years. Children present with anaemic crises (malaria, splenic sequestration, folate deficiency, and possibly aplastic), infarctive crises (hand-foot syndrome, bone-pain, pulmonary and abdominal) or acute infections (malaria, pneumonia, septicaemia, meningitis, osteomyelitis). Tragically, many patients in central Africa have been infected by the human immunodeficiency virus (HIV) through blood transfusions; they present with generalised lymphadenopathy and other features of the acquired immunodeficiency syndrome (AIDS). The principles of management are (1) to ensure freedom from malaria, (2) to continue folic acid supplements, (3) to give blood transfusions only when anaemia endangers life, (4) to control pain, (5) to restore hydration, and (6) to prescribe broad spectrum antibiotics in large dosage and without delay, but only when there are definite indications, such as fever (greater than 39 degrees C), acute pulmonary disease, meningitis, and acute osteomyelitis. The advent of HIV and AIDS makes the control of SCD of even greater importance. Principles of control are (1) early diagnosis through appropriate laboratory techniques and selective screening, (2) education of parents, patients, health professionals and public, and (3) the maintenance of health at sickle cell clinics; measures must include antimalarial prophylaxis. SCD programmes should be integrated with primary health care and AIDS control programmes.
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PMID:The presentation, management and prevention of crisis in sickle cell disease in Africa. 265 Jul 73

Fungal and mycobacterial infections are among the most common opportunistic infections in patients infected with human immunodeficiency virus (HIV). Candida infections are the bell-wether of progression to symptomatic HIV infection and candida oesophagitis often marks the onset of the acquired immunodeficiency syndrome (AIDS). More than 80% of AIDS patients have candida disease. Candida infections remain local and respond to treatment but tend to recur. Cryptococcal infections initially affect few HIV positive patients but involve 10-30% with AIDS. Meningitis is the usual presentation and dissemination is common. Amphotericin usually produces improvement but cure is infrequent, and maintenance therapy is advisable. Mycobacteria cause intracellular infections increasing in parallel with immunodeficiency. Mycobacterium avium-intracellulare is predominant, occurring with other opportunistic pathogens causing systemic and local symptoms with high bacterial density in infected cells. Multidrug treatment is best, but the results are disappointing. Tuberculosis is prevalent in certain groups of patients. It often presents with atypical clinical and pathological features. Anti-tuberculous treatment is effective and prophylaxis should be considered. Endemic fungi with mycobacteria cause sporadic infections. Opportunistic infections are the lethal arm of HIV infection. Diligent diagnosis and persistent treatment offer benefit to HIV-infected patients.
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PMID:Fungal and mycobacterial infections in patients infected with the human immunodeficiency virus. 265 13

The peripheral and central nervous systems are commonly affected in patients with acquired immunodeficiency syndrome (AIDS). Primary infection with human immunodeficiency virus (HIV) can cause an acute encephalitis, meningitis, or an acute polyneuropathy. Spinal cord involvement can result in a progressive spastic paraparesis. Many patients develop dementia which can be severely debilitating. Sensory neuropathies can also occur late in the course.
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PMID:The neurologic manifestations of primary HIV infection. 265 95

A 22-year-old Haitian man had a 15-month course of progressive meningitis accompanied by multiple cerebral infarcts. Multiple areas of stenosis and occlusion in all branches of the circle of Willis, and hypertrophy of collateral perforating vessels at the base of the brain in a "puff of smoke" appearance typical of moyamoya disease were seen on cerebral angiogram 5 months before the patient died. At autopsy, the patient had meningovascular syphilis and a necrotizing encephalitis with massive treponemal invasion of the brain, the pathology of late-stage degenerative, "quaternary", neurosyphilis. The patient was also infected with human immunodeficiency virus (HIV). Retrovirus-like particles 100 nm in diameter with dense cores were seen by electron microscopy. Nucleic acid obtained from the patient's brain contained sequences homologous to HIV DNA as determined by dot blot hybridization. The moyamoya-like radiologic appearance of neurosyphilis has not been previously described. The autopsy finding of quaternary neurosyphilis in a patient with HIV infection supports the hypothesis that retrovirus may alter the natural history of syphilitic infection.
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PMID:Quaternary neurosyphilis in a Haitian man with human immunodeficiency virus infection. 274 54

The fourth component of complement (C4) is encoded by two separate but linked loci (C4A and C4B), each of which produces functionally active C4. Although C4A and C4B share certain antigenic and functional characteristics that identify them as C4, they differ with respect to other structural and functional properties. For example, C4B possesses four times the functional hemolytic activity of C4A. This suggests that homozygous deficiency of C4B might be associated with an increased susceptibility to infection. Forty-six children with bacterial meningitis were examined. Of these, 5 (10.9%) were homozygous deficient for C4B versus 7 (3.1%) of 223 controls (P = 0.038). There was no relation between the prevalence of heterozygous C4B deficiency and meningitis or between the prevalence of either homozygous or heterozygous C4A deficiency and meningitis. These results suggest that homozygous C4B deficiency is a relatively common immunodeficiency disorder that is clinically significant and predisposes children to bacterial meningitis.
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PMID:Association of homozygous C4B deficiency with bacterial meningitis. 278 99

Alaskan Eskimos have the highest known prevalence of invasive Haemophilus influenzae type b (Hib) disease, primarily meningitis, affecting 1-5% of all children in the first two years of life. In this population a polymorphic genetic variant of the pyrimidine pathway enzyme, uridine monophosphate kinase-3 (UMPK-3), was found to be positively associated with invasive Hib disease (relative risk 3.3) and a tendency towards a younger age at onset of illness. There was no difference in levels of naturally acquired Hib anticapsular antibody between persons with Hib disease and healthy controls in this population. This suggests that UMPK-3 may have a role in mediating non-humoral immunity to Hib. However, unlike other enzyme variants in the nucleoside synthesis pathways which result in syndromes of severe immunodeficiency, this gene appears to confer a more subtle disease susceptibility.
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PMID:Uridine monophosphate kinase 3: a genetic marker for susceptibility to Haemophilus influenzae type B disease. 286 46

We describe the clinical and postmortem findings in a 57-year-old man with human immunodeficiency virus who presented with neurologic symptoms attributed to stroke. In addition to multiple foci of ischemic necrosis, pathologic examination of the brain showed chronic basal meningitis and vasculitis. No microorganisms were found. The association of meningitis and vasculitis in patients with acquired immunodeficiency syndrome is unusual and the possibility that these conditions may be due to primary human immunodeficiency virus infection is raised.
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PMID:Chronic basal meningitis and vasculitis in acquired immunodeficiency syndrome. A possible role for human immunodeficiency virus. 277 61


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