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)

Three siblings presented in early childhood with central-nervous-system (CNS) dysfunction, candida dermatitis, keratoconjunctivitis, and alopecia. Two were studied immunologically and had absent delayed-hypersensitivity skin-test responses and absent in-vitro lymphocyte responses to candida antigen. One of them had selective IgA deficiency and no antibody response to pneumococcal polysaccharide immunisation, and the other had a subnormal percentage of T lymphocytes in peripheral blood. The first two siblings died with progressive CNS deterioration and overwhelming infection. The third child, who presented with a periorificial candida dermatitis, alopecia, keratoconjunctivitis, and intermittent ataxia at eighteen months of age, had intermittent lactic acidosis and raised excretion of beta-hydroxyproprionate, methylcitrate, beta-methylcrotonylglycine, and beta-hydroxyisovalerate in urine. After four days of oral biotin, 10 mg/per day, the metabolites in her urine were significantly reduced, suggesting a biotin-responsive multiple carboxylase deficiency. These findings, taken with previous reports of immune defects in patients with disorders of branched-chain aminoacid catabolism, suggest a new biochemical basis for primary immunodeficiency disease.
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PMID:Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. 8 54

Nineteen patients with a variety of well-defined primary immunodeficiency diseases were examined for ocular abnormalities. Eight patients with low levels, or absence, of all the major serum immunoglobulins had conjunctivitis or keratoconjunctivitis associated with bacterial infection. The remaining 11 patients, who had at least one immunoglobulin class present in normal concentration in the serum, showed no inflammatory ocular lesion. Absence of only IgA, the major tear immunoglobulin, did not predispose the eye to these lesions.
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PMID:Conjuctivitis and keratoconjunctivitis associated with primary immunodeficiency diseases. 33 23

Recent reports suggest that acquired immunodeficiency syndrome (AIDS) patients are at higher risk of developing mucocutaneous reactions such as toxic epidermal necrolysis and Stevens-Johnson syndrome (SJS). Resultant dry eye may be further exacerbated by human immunodeficiency virus (HIV) related lacrimal gland dysfunction and lead to a chronic keratoconjunctivitis. We report one patient with AIDS and toxic epidermal necrolysis and two patients with AIDS and SJS who developed severe dry eye misdiagnosed as infectious keratoconjunctivitis. Cicatrizing mucocutaneous reactions should be suspected in AIDS patients and the dry eye treated to control symptoms and prevent complications.
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PMID:Ocular complications of Stevens-Johnson syndrome and toxic epidermal necrolysis in patients with AIDS. 178 83

Despite significant knowledge of the molecular biology and genetics of adenovirus, no specific antiviral agent has been developed for use in adenovirus infections. This contrasts with the situation in herpes simplex virus (HSV) and human immunodeficiency virus (HIV) infections, in which antiviral agents target specific enzymes. Antiviral agents active against HSV and interferons have been used in the treatment of ocular adenovirus infections with limited effect. Some newer nucleoside analogues have inhibitory activity against adenovirus in vitro and their effect is being assessed in newly developed animal models. Live vaccines have been used in both the United States and Canada to protect military recruits against adenovirus-induced respiratory disease. However, the inoculating strains are not normally associated with epidemic keratoconjunctivitis (EKC). There is a low prevalence of antibody against strains of adenovirus inducing EKC. Until such time as specific antiviral agents against adenovirus are developed, the mainstays of therapy will remain topical antibiotics to eliminate any secondary bacterial infection and topical steroids to suppress the immune response against adenovirus or adenovirus-infected cells. Neither form of treatment is adenovirus specific.
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PMID:Antiviral agents for ocular adenovirus infections. 825 19

External ocular disease associated with human immunodeficiency virus (HIV) infection can often be overlooked by the eye care practitioner. Different types of external ocular disease can be an indication of the patient's overall immune status as well as the stage of HIV infection. The external ocular sequelae of HIV infection can be of visual consequence for the patient. Eye care practitioners need to become familiar with these conditions. The diagnosis and management of the following ocular conditions associated with HIV infection are reviewed: conjunctival microvascular disease, dry eye, allergic conjunctivitis, microsporidial keratoconjunctivitis, herpes zoster ophthalmicus, herpes simplex keratitis, molluscum contagiosum, fungal keratitis, bacterial keratoconjunctivitis, and Kaposi's sarcoma (KS).
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PMID:Review of external ocular disease associated with aids and HIV infection. 872 88

Microsporidia are obligate intracellular protozoan parasites that infect a broad range of vertebrates and invertebrates. They are increasingly recognized as human pathogens, especially in patients infected with human immunodeficiency virus (HIV). Organisms of the genus Encephalitozoon have been implicated as a major cause of disseminated microsporidian infections in persons with AIDS. Until recently, E. hellem was the only Encephalitozoon species confirmed by antigenic or nucleic acid methods to have infected humans. We describe the clinical course and morphological features of a case of disseminated microsporidian infection with Encephalitozoon cuniculi in an HIV-infected patient with chronic sinusitis, rhinitis, and keratoconjunctivitis. Parasites were found in conjunctival swab, nasal discharge, sputum, urine, stool, and duodenal biopsy specimens, but no pulmonary, renal, or gastrointestinal symptoms were documented. The patient was treated with albendazole (400 mg po b.i.d.), resulting in complete remission of his ocular and nasal symptoms, and microsporidian spores disappeared from all sites. To our knowledge, this case is only the second of E. cuniculi infection in humans that has been confirmed by either antibody- or nucleic acid-based methods, and it is the first in which an Encephalitozoon species has been found in the intestinal tract of a human. Microsporidiosis is an important emerging opportunistic infection in HIV-infected patients and, as documented in this report, has an expanding clinicopathologic spectrum.
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PMID:Immunologically confirmed disseminated, asymptomatic Encephalitozoon cuniculi infection of the gastrointestinal tract in a patient with AIDS. 874 39

Microsporidia are small, intracellular parasites that infect a wide range of hosts, including vertebrates, invertebrates and fish. They were discovered more than a century ago. The first well documented human case, however, was not reported until 100 years later. Since the first case of intestinal microsporidiosis was reported in 1985, numerous cases of microsporidiosis have been reported in immunocompromised patients, especially those in the later stages of human immunodeficiency virus (HIV) infection. Microsporidia also have been described in various other clinical conditions, including keratoconjunctivitis, sinusitis, peritonitis and myositis. The numbers of cases reported have risen dramatically since 1985, which can be explained partly by the acquired immune deficiency syndrome (AIDS) pandemic and partly by increased laboratory awareness. Some studies have shown that up to 50% of selected AIDS patients are infected with microsporidia. Diagnosis depended initially on the use of invasive techniques, namely histological examination of biopsy material. Since then, however, there have been important advances in the detection of microsporidial spores in clinical samples. Recent developments in the diagnosis of microsporidiosis are described, including light microscopy staining methods, fluorescent staining, electron microscopy and molecular techniques.
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PMID:Microsporidial infections in humans: current practice and developments in laboratory diagnosis. 949 99

Human microsporidiosis is a parasitic infection due to species of four different genera: Encephalitozoon; Enterocytozoon; Nosema; and Pleistophora. Although well known as a cause of disease in animals, microsporidiosis was only occasionally reported in humans. Recently, in human immunodeficiency virus (HIV)-infected patients, microsporidia belonging to Encephalitozoon and Enterocytozoon species have proved to be important opportunistic pathogens. Enterocytozoon bieneusi is associated with chronic intermittent diarrhea, cholangiopathy and sinusitis whereas Encephalitozoon intestinalis, Encephalitozoon hellem and Encephalitozoon cuniculi, the three Encephalitozoon species found in humans, are associated with diarrhea, rhinosinusitis, keratoconjunctivitis, nephritis and hepatitis. Diagnosis of microsporidial infections in humans was until recently an invasive, laborious procedure including electron microscopy of small intestine biopsies. However, new simple staining methods using Uvitex 2B or modified trichrome stain for feces and other body fluids have facilitated clinical diagnosis as well as drug evaluation and epidemiological studies. The application of monoclonal antibodies and molecular techniques such as the polymerase chain reaction have further improved microsporidial diagnosis. Treatment of Entero. bieneusi has, until now, been unsuccessful whereas albendazole has proved to be an effective treatment for Encephalitozoon species infection. Identification of effective treatment for Entero. bieneusi infections and further study of the pathogenicity of these microsporidial infections in immunocompetent hosts are important future challenges.
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PMID:Human microsporidiosis: Clinical, diagnostic and therapeutic aspects of an increasing infection. 1186 34

The eye is a common site for complications of human immunodeficiency virus (HIV) infection. Although cytomegalovirus retinitis remains the most prevalent of the blinding ocular disorders that can occur in individuals with the acquired immunodeficiency syndrome (AIDS), several important HIV-associated disorders may involve the anterior segment, ocular surface, and adnexae. Some of these entities, such as Kaposi sarcoma, were well described, but uncommon, before the HIV epidemic. Others, like microsporidial keratoconjunctivitis, have presentations that differ between affected individuals with HIV disease and those from the general population who are immunocompetent. The treatment of many of these diseases is challenging because of host immunodeficiency. Survival after the diagnosis of AIDS has increased among individuals with HIV disease because of more effective antiretroviral therapies and improved prophylaxis against, and treatment of, opportunistic infections. This longer survival may lead to an increased prevalence of anterior segment and external ocular disorders. In addition, the evaluation and management of disorders such as blepharitis and dry eye, which were previously overshadowed by more severe, blinding disorders, may demand increased attention, as the general health of this population improves. Not all individuals infected with HIV receive potent antiretroviral therapy, however, because of socioeconomic or other factors, and others will be intolerant of these drugs or experience drug failure. Ophthalmologists must, therefore, still be aware of the ocular findings that develop in the setting of severe immunosuppression. This article reviews the spectrum of HIV-associated anterior segment and external ocular disorders, with recommendations for their evaluation and management.
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PMID:Anterior segment and external ocular disorders associated with human immunodeficiency virus disease. 1757 62

Common variable immune deficiency (CVID) is characterized by hypogammaglobulinemia, impaired antibody production, and recurrent bacterial infections. Reports of ocular manifestations of CVID are rare. The authors discuss a patient with recurrent keratoconjunctivitis that presented as an initial manifestation of CVID. The diagnosis of CVID should be entertained where multiple recurrences of keratoconjunctivitis are unresponsive to antibiotic and steroid therapy and when other causes of immune deficiency have been excluded. Intravenous immunoglobulin (IVIG) was used successfully as treatment and is required lifelong as prophylaxis against further episodes of keratoconjunctivitis as well as the other infectious and inflammatory complications of this primary immunodeficiency syndrome.
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PMID:Recurrent multi-organism keratoconjunctivitis manifesting as a first presentation of common variable immune deficiency (CVID). 1797 26


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