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)

We present a case-report of a patient with a typical history and a barium enema study diagnostic of right-sided colonic cancer. Laparotomy and right hemicolectomy was carried out. Histological examination revealed Cytomegalovirus (CMV) colitis and the patient was subsequently tested positive for Human immunodeficiency Virus (HIV). Gastrointestinal symptoms are common in patients with Acquired Immune Deficiency Syndrome (AIDS) and up to 10% of all AIDS patients have CMV colitis. The diagnostic criteria for CMV colitis is reviewed. AIDS is likely to become more common and we stress the awareness of this condition as well as the need for preoperative colonoscopy and histological diagnosis in patients with radiological diagnosis of colorectal carcinoma.
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PMID:CMV colitis masquerading as colon cancer--an unusual presentation of acquired immunodeficiency syndrome. 926 53

Admitted medical records, from January 1988 to December 1995, of 28 symptomatic amebic patients who lived in the east-southeast area of Tokyo were studied retrospectively, in order to find the present characteristics of symptomatic amebiasis due to Entamoeba histolytica in this area. Categorized by disease, there were 14 cases of colitis, 9 cases of liver abscess, 4 cases of colitis with liver abscess, and 1 case of liver abscess with brain abscess. Patients consisted of 26 Japanese males, 0 Japanese females, 1 non-Japanese male and 1 non-Japanese female. The mean age of colitis patients and liver abscess patients was 55.4 years old and 41.3 years old, respectively. The presumed place of contraction was Japan in 64% of the patients. Forty-eight percent of male patients indicated that they engaged in homosexual or bisexual practices, and 36% of male patients who denied such sexual practices or did not answer the question had no history of marriage. Positive rate of serum titre for Treponema pallidum hemagglutination test (TPHA) and human immunodeficiency virus antibody was 42.9% and 0%, respectively. Sixty-seven percent of TPHA-positive patients indicated that they engaged in male homosexual or bisexual practices. Zymodeme patterns of E. histolytica isolated from 4 colitis patients were XIV in 1 case and II in 3 cases. Symptomatic amebiasis in the east-southeast area of Tokyo is a disease which predominantly afflicts males, especially those in their middle age, and most patients contract the disease in Japan. The high rates of patients who engaged in male homosexual or bisexual practices and the high rates of patients with positive TPHA suggest that amebiasis is likely to be sexually transmitted disease in homosexual and bisexual men in the east-southeast area of Tokyo, and zymodeme II may be the predominant type in symptomatic amebic colitis in this area.
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PMID:Present characteristics of symptomatic amebiasis due to Entamoeba histolytica in the east-southeast area of Tokyo. 944 Apr 41

The Wiskott-Aldrich syndrome (WAS) is a human X-linked immunodeficiency resulting from mutations in a gene (WASP) encoding a cytoplasmic protein implicated in regulating the actin cytoskeleton. To elucidate WASP function, we disrupted the WASP gene in mice by gene-targeted mutation. WASP-deficient mice showed apparently normal lymphocyte development, normal serum immunoglobulin levels, and the capacity to respond to both T-dependent and T-independent type II antigens. However, these mice did have decreased peripheral blood lymphocyte and platelet numbers and developed chronic colitis. Moreover, purified WASP-deficient T cells showed markedly impaired proliferation and antigen receptor cap formation in response to anti-CD3epsilon stimulation. Yet, purified WASP-deficient B cells showed normal responses to anti-Ig stimulation. We discuss the implications of our findings regarding WASP function in receptor signaling and cytoskeletal reorganization in T and B cells and compare the effects of WASP deficiency in mice and humans.
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PMID:Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation. 969 38

The colon is a frequent site of gastrointestinal complications in patients with HIV infection, and these colonic disorders increase in frequency as immunodeficiency worsens. The most common clinical manifestations of colonic disease in AIDS are diarrhea, lower gastrointestinal bleeding, and abdominal pain. Toxic megacolon, intussuseption, typhlitis, idiopathic colonic ulcer, and pneumatosis intestinalis also have been described. In the HIV-infected patient with preserved immunity, the most common cause of colitis is bacterial, but as the degree of immunodeficiency worsens, opportunistic pathogens (CMV, protozoa, mycobacteria, fungi) and neoplasms become more frequent. The frequent use of antibiotics, chemotherapeutic agents, and frequent hospitalization increase the susceptibility to cf2Clostridium difficule cf1colitis. Endoscopy plays an integral role in the management of many colonic disorders in AIDS.
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PMID:Diagnosis and treatment of colonic disease in AIDS. 973 Sep 38

Adenovirus infection of the gastrointestinal tract in human immunodeficiency virus (HIV)-infected patients is rarely reported, probably because of a lack of familiarity of most pathologists with diagnostic criteria during routine light microscopy and possible misidentification as cytomegalovirus infection. We studied colonoscopic biopsy specimens from 135 HIV-infected patients with clinically suspected cytomegalovirus colitis during a 4.5-year period to morphologically identify the presence of adenovirus infection. Immunohistochemical staining for adenovirus was performed for confirmation on all suspected cases. Adenovirus infected cells showed characteristic amphophilic or eosinophilic nuclear inclusions, predominantly affecting the surface epithelium and characteristically involving goblet cells. Sixteen cases showed morphologic features of adenovirus infection, all confirmed by immunohistochemistry. Twelve cases also showed cytomegalovirus infection, whereas 4 showed adenovirus alone. In 10 cases, adenovirus colitis was not recognized during initial routine histopathologic diagnostic evaluation. Adenovirus inclusions also were discovered in the stomach, the duodenum, and the liver in single cases. Conclusions are as follows: (1) Adenovirus colitis has been underdiagnosed at our institution and, we suspect, in general. (2) The morphologic features and nuclear inclusions of adenovirus colitis are characteristic and can be identified reliably by routine light microscopy. (3) Adenovirus infection also may be diagnosed morphologically in extracolonic sites, such as the stomach, the small intestine, and the liver. (4) Coinfection of adenovirus with cytomegalovirus and other agents is seen frequently, but, less frequently, adenovirus may be identified as a sole pathogen.
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PMID:Adenovirus colitis in human immunodeficiency virus infection: an underdiagnosed entity. 973 43

Cytomegalovirus (CMV) is responsible for the most common viral opportunistic infection in persons with acquired immunodeficiency virus syndrome (AIDS). Clinical disease due to CMV has been recognized in up to 40% of patients with advanced HIV disease. The most common presentation is retinitis, although colitis, esophagitis, pneumonitis and neurological disorders are also reported frequently. CMV retinitis is usually diagnosed clinically, and serological testing for CMV immunoglobulin is useful to support the diagnosis. Parts of the gastrointestinal tract (esophagus and colon) are the most common extraocular sites of CMV infection in AIDS patients. Therapy with systemic agents, including intravenous ganciclovir, intravenous foscarnet, and intravenous cidofovir, is effective. Ganciclovir is associated mainly with hematological toxicity, while foscarnet and cidofovir are nephrotoxic. Intravitreal injections with these antiviral agents are also effective, but inconvenient, and there is a need for repeated injections. Intraocular implants that slowly release ganciclovir have been effective for both acute therapy and long-term maintenance, but the occurrence of contralateral ocular and extraocular disease is a serious concern. New agents, as for example an anti-sense agent against CMV, appear promising.
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PMID:Cytomegalovirus infection in patients with HIV infection. 1010 Apr 16

Cytomegalovirus infection is usually reported in immunocompromised patients. In this study, apparently immunocompetent patients with cytomegaloviral colitis were reviewed. Records with a diagnosis of cytomegaloviral colitis from January 1989 to June 1996 were retrieved for analysis. Ten patients were included (median age 70 yr). The major presenting symptoms were diarrhea and hematochezia. Ulceration was the main macroscopic finding. Rectal bleeding was mostly self-limiting. Three patients developed local complications (rectovaginal fistula in two; rectal stricture in one). In the two patients with rectovaginal fistula, lymphocytes subsets and proliferative response were entirely normal. In the other patient, low B lymphocyte count and low response to mitogen were demonstrated. However, the immunoglobulins were not suppressed and rectal biopsies revealed noncaseating granulomas, suggesting activated cell-mediated immunity. In conclusion, a high index of suspicion is crucial for early diagnosis of cytomegaloviral colitis in patients with bloody diarrhea, even though obvious evidence of immunodeficiency is lacking.
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PMID:Cytomegalovirus colitis in individuals without apparent cause of immunodeficiency. 1023 2

A registry of United States residents with chronic granulomatous disease (CGD) was established in 1993 in order to estimate the minimum incidence of this uncommon primary immunodeficiency disease and characterize its epidemiologic and clinical features. To date, 368 patients have been registered; 259 have the X-linked recessive form of CGD, 81 have 1 of the autosomal recessive forms, and in 28 the mode of inheritance is unknown. The minimum estimate of birth rate is between 1/200,000 and 1/250,000 live births for the period 1980-1989. Pneumonia was the most prevalent infection (79% of patients; Aspergillus most prevalent cause), followed by suppurative adenitis (53% of patients; Staphylococcus most prevalent cause), subcutaneous abscess (42% of patients; Staphylococcus most prevalent cause), liver abscess (27% of patients; Staphylococcus most prevalent cause), osteomyelitis (25% of patients; Serratia most prevalent cause), and sepsis (18% of patients; Salmonella most prevalent cause). Fifteen percent of patients had gastric outlet obstruction, 10% urinary tract obstruction, and 17% colitis/enteritis. Ten percent of X-linked recessive kindreds and 3% of autosomal recessive kindreds had family members with lupus. Eighteen percent of patients either were deceased when registered or died after being registered. The most common causes of death were pneumonia and/or sepsis due to Aspergillus (23 patients) or Burkholderia cepacia (12 patients). Patients with the X-linked recessive form of the disease appear to have a more serious clinical phenotype than patients with the autosomal recessive forms of the disease, based on the fact that they are diagnosed significantly earlier (mean, 3.01 years of age versus 7.81 years of age, respectively), have a significantly higher prevalence of perirectal abscess (17% versus 7%), suppurative adenitis (59% versus 32%), bacteremia/fungemia (21% versus 10%), gastric obstruction (19% versus 5%), and urinary tract obstruction (11% versus 3%), and a higher mortality (21.2% versus 8.6%).
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PMID:Chronic granulomatous disease. Report on a national registry of 368 patients. 1084 35

A patient suffering from common variable immunodeficiency is described, who developed a myelitis under treatment with glucocorticosteroids. Later on, autoimmune complications had to be treated with azathioprine. An exacerbation of the myelitis, retinitis, encephalitis and colitis was observed and a cytomegalovirus infection diagnosed. This infection does not represent a typical complication of common variable immunodeficiency. A functional NK cell defect was detected that may contribute to susceptibility for cytomegalovirus infection in addition to immunosuppressive therapy.
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PMID:CMV complications in common variable immunodeficiency. 1099 94

Aetiological diagnosis of protracted diarrhoea remains obscure in as many as 30% of cases despite extensive investigations. A number of newer syndromes have been recognized amongst this "idiopathic group" which includes microvillous inclusion disease, "tufting" enteropathy and epithelial dysplasia, autoimmune enteropathy and "syndromic" immunodeficiency with characteristic facial abnormalities, woolly hair and intractable diarrhea. The molecular basis of some of these syndromes has been reviewed but in only a small series of patients has the functional defect been characterized. If a case is suspected the antenatal history, family history and history of consanguinity should be sought. Extra-intestinal manifestations, presence of gut or other auto-antibodies, together with phenotypic abnormalities should be looked for. Careful light and electron microscopy is done of small bowel biopsies, although microvillous inclusion disease can be usually suspected on PAS staining. Large bowel biopsy may be needed to exclude an unsuspected microscopic colitis. The prognosis of this group of conditions is poor with an overall 50-85% mortality. Although successful gut transplantation has been reported, genetic counselling may be one of the more important aspects of the clinicians' role.
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PMID:Newer diarrheal syndromes. 1113 69


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