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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Common variable immunodeficiency (CVI) is a primary immunodeficiency characterized by deficient antibody production. The cause of this immunodeficiency is unknown; several in vitro studies have revealed a significant number of alterations that could explain the hypogammaglobulinemia present in this syndrome. Among those described are primary B cell alterations, numerical and functional T cell abnormalities, and defects in the interaction between accessory cells. The alteration typical of CVI is the failure of B lymphocytes to differentiate from antibody-producing cells, resulting in deficient immunoglobulin secretion. Among the T cell abnormalities described are a diminished proliferative response to mitogens and antigens, alterations in the level of production of several cytokines, especially reduction in the production of IL-2, diminished antigen-specific T cells and increase basal apoptosis after stimulation. Antigen presenting cells, monocytes and dendritic cells can also present alterations and contribute to deficient antigen response. The clinical manifestations of these patients is variable; most present recurrent bacterial infections due to encapsulated bacteria, especially sinusitis, otitis, bronchitis, and pneumonias. A few patients can present mycobacterial or fungal infection and occasionally Pneumocystis carinii. Viral infection is uncommon in these patients although some suffer recurrent herpes zoster infection. Clinical features of septicemia and central nervous system infections are less frequent. The incidence of digestive tract infections in these patients is high. The most common cause of diarrhea is Giardia lamblia; Salmonella, Shigella and Campylobacter are also common pathogens. Autoimmune disease is also more prevalent in these patients than in the general population. The most frequently associated diseases are hemolytic anemia, idiopathic thrombocytopenic purpura and autoimmune neutropenia. Cancer is also frequently associated with CVI, the most common forms being lymphoproliferative syndromes, especially non-Hodgkin's lymphoma. Granulomas are a unusual manifestation in some patients with CVI; their localization varies but the most commonly affected organs are the spleen and lungs. Some authors have compared these granulomas with those characterizing sarcoidosis, especially when appearing in the lung. Diagnosis of CVI is usually by exclusion of other diseases, such as cystic fibrosis, immotile cilia syndrome or allergic processes. CVI should be suspected in all patients with recurrent bacterial infections especially those localized in the respiratory tract. Other primary immunodeficiencies which present clinical findings similar to CVI and which should be ruled out are selective IgG subclass deficiency, IgA deficiency and selective deficiency in the response to polysaccharide antigens with normal immunoglobulin levels. The serum hypogammaglobulinemia present in all patients with CVI provides the diagnostic key. The age at which clinical manifestations appear, the absence of familial antecedents and the presence of circulating B lymphocytes form the basis of the differential diagnosis between X-linked agammaglobulinemia and autosomal recessive forms. The treatment of choice of patients with CVI is treatment with human gamma-globulin. Currently, the most common route of administration is intravenous; these molecules have a half-life of approximately 21 days and a high degree of safety concerning the possible transmission of viral infections. Adverse reactions are generally few and clinically unimportant. The most frequently used doses oscillate between 200 and 400 mg/kg body weight every 2-4 weeks. Both the dose and its frequency should be personalized for each patient. Early diagnosis of patients with CVI, application of treatment with appropriate antibiotics for infections and treatment with gamma-globulins prevent long-term complications of this disease and dramatically improve the quality of life and life expectancy of these patients.
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PMID:[Common variable immunodeficiency. Review]. 1143 84

Microsporidia are ubiquitous organisms that are emerging pathogens in humans. These are most likely zoonotic and/or waterborne infections. In the immunosuppressed host, such as those treated with immunosuppressive drugs or infected with human immunodeficiency virus particularly at advanced stages of the disease, microsporidia can produce a wide range of clinical diseases. The most common manifestation is gastrointestinal tract infection; however, encephalitis, ocular infection, sinusitis, myositis and disseminated infection have also been described. In addition, these organisms have been reported in immune competent individuals. Multiple genera are involved in these infections and different organisms can result in distinct clinical pictures. Differences in clinical and parasitologic response to various therapeutic agents have emerged from clinical, as well as in vitro and in vivo studies. Currently there are no precisely defined guidelines for the optimal treatment of microsporidial infections. This article reviews the available data on compounds with in vitro activity and/or in vivo efficacy for microsporidial infections. Copyright 2000 Harcourt Publishers Ltd.
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PMID:Drug treatment of microsporidiosis. 1149 5

The purpose of this study was to determine the association between sinusitis and survival among human immunodeficiency virus (HIV)-infected persons. All patients enrolled in the adult spectrum of disease data base from November 1, 1990 to November 1, 1999 were included. Patients were followed until death, loss to follow-up, or the end of the study on January 10, 2000. A Cox proportional hazard regression analysis was conducted to evaluate the association between sinusitis, various other cofactors, and survival. Of the 7513 HIV-infected patients followed, 57% were <35 years old, 59.5% were black, 78.5% were male, and 20.8% had an opportunistic infection (OI) at entry. The incidence of one or more diagnoses of sinusitis in the cohort was 14.5%. The mean entry CD4 count for the entire cohort was 347.8 (SD, 298.9) and the mean follow-up time was 33.2 months (SD, 25.7). The mean CD4 count at the time of sinusitis diagnosis was 391 (SD, 316). In the multivariate analysis, older age and lower CD4 cell count were associated with death. Sinusitis, gender, and race were not associated with survival. Sinusitis is frequent in individuals infected with HIV. After adjusting for level of immunodeficiency, age, gender, and race, sinusitis is not associated with an increased hazard of death. This may have implications for treatment, because a diagnosis of sinusitis does not portend a poor prognosis in individuals infected with HIV.
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PMID:The association between sinusitis and survival among individuals infected with the human immunodeficiency virus. 1173 22

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

We report two cases with common variable immunodeficiency. Both of them had gammaglobulin concentration lower than 300 mg/dL and evolved differently. The first one had three pneumonic episodes that responded satisfactorily to antibiotics. Today, this patient presents only two or three sinusitis clinical schemes per year, and has a good response to treatment. The second one has a bad evolution and presents hematological problems like thrombocytopenia and neutropenia. She also suffers lymphoid nodular hyperplasia in the intestinal tract and atrophy in the intestinal. These cases illustrate the wide clinical, immunological and genetic variety of the syndrome.
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PMID:[Common variable immunodeficiency. Report of 2 cases]. 1250 63

Objectives: To study etiological, epidemiological and clinical features of 97 cases of acute meningitis. Methods: Ninety-seven cases of acute meningitis were examined in adult HIV-negative patients admitted to the Infectious Diseases Unit of the Azienda Ospedale-Universita S. Anna in Ferrara. Demographic, etiological, epidemiological and clinical data were analyzed. Results: All cases were divided into two groups according to the macroscopic aspect of cerebrospinal fluid (CSF): purulent CSF (50 cases) or non-purulent CSF (47 cases). Purulent CSF meningitis more frequently affected male patients (64% vs 47%) and older patients (average 52 vs 44 years). The main epidemiological features in both groups were underlying bacterial diseases (i.e. otomastoiditis and/or sinusitis in 50% of pneumococcal meningitis) and iatrogenic immunodeficiency. From a clinical point of view the following alterations in the state of consciousness (stupor, confusion and coma) were most frequently found in purulent meningitis. The following non purulent forms of meningitis were diagnosed: 5 tubercular, 3 viral infections, 2 by Listeria monocytogenes, 1 by Entoameba histolytica, 1 by Cryptococcus neoformans and 35 (74,4%) unknown causes. Purulent meningitis were: 20 (40%) Streptococcus pneumoniae, 10 Neisseria meningitidis, 3 Staphylococcus aureus, 2 Escherichia coli, 1 Haemophilus influenzae and 1 Pseudomonas aeruginosa; 13 cases were unidentified. From 1989 to 1993 and from 1994-98 both groups of meningitis increased; respectively from 17 to 30 cases for non-purulent meningitis and from 18 to 32 cases for purulent meningitis. Meningitis due to Streptococcus pneumoniae increased from 27.7% to 46.8% during the period 1994-98. Conclusions: The study shows the high incidence of pneumococcal meningitis, during 1994-98, because a large number of patients with sinusitis and otomastoiditis were observed. The incidence of meningococcal meningitis appears stable. These data confirm the importance of timely diagnosis and correct therapy for such infections with reserved prognosis.
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PMID:[Current epidemiological and clinical features meningitis in a northern Italian area] 1271 95

The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, reduced levels of IgG and IgA, and defective T-cell function. Because of its rarity, it has been difficult for any single investigator or institution to develop a comprehensive clinical picture of this disorder. Accordingly, a national registry was developed in the United States to provide demographic, genetic, immunologic, and clinical information on a relatively large number of patients with the XHIGM syndrome.A total of 79 patients from 60 unrelated families were registered between January 1997 and July 2002. The estimated minimal incidence was approximately 1/1,030,000 live births. All of the patients had significant IgG deficiency and most had IgA deficiency, but only one-half had elevated IgM levels. Most patients presented initially with a history of an increased susceptibility to infection including Pneumocystis carinii pneumonia. The average age of diagnosis was significantly earlier in patients born into a family with a previously affected individual. However, only one-third of the patients born into a family with a previously affected individual were diagnosed exclusively because of the presence of the positive family history before any clinical symptoms developed. Over half the patients developed symptoms of immunodeficiency and were diagnosed by 1 year of age, and over 90% by 4 years of age. The most prominent clinical infections were pneumonia (81% of patients), upper respiratory infections (49%) including sinusitis (43%) and recurrent otitis (43%), recurrent/protracted diarrhea (34%), central nervous system infections (14%), sepsis (13%), cellulitis (13%), hepatitis (9%), and osteomyelitis (1%). In addition to infections caused by encapsulated bacteria, opportunistic infections were relatively common and were caused by P. carinii, members of the herpes virus family (including cytomegalovirus), Cryptosporidium, Cryptococcus, Candida, Histoplasma, and Bartonella. Sclerosing cholangitis occurred in 5 patients and in 4 of these was associated with Cryptosporidium infection. Eight patients had died at the time of their entry into the Registry; 2 of pneumonia (1 P. carinii and 1 cytomegalovirus), 2 of encephalitis (1 ECHO virus and 1 cytomegalovirus), 2 of malignancy (both hepatocellular carcinoma), 1 of sclerosing cholangitis caused by Cryptosporidium, and 1 of hemolytic uremic syndrome.
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PMID:The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. 1466 87

We report the first recorded case of a septal perforation caused by Mycobacterium kansasii. This atypical mycobacterium is finding increasing prevalence with the increasing incidence and longevity of human immunodeficiency (HIV) infections. Cases of chest infection, sinusitis, septic arthritis, osteomyelitis, pericarditis, brain abscess, cutaneous and oral lesions have all now been reported. This discovery represents a rare but important differential in the aetiology of septal perforation.
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PMID:Septal perforation secondary to Mycobacterium kansasii infection. 1473 15

In order to determine the clinical and laboratory features of X-linked agammaglobulinemia, the records of 33 male patients with XLA were reviewed during 22 years (1980-2002) in the Iranian referral center of primary immunodeficiency disorders. The patients' ages ranged from 20 to 360 months (median 113 months). The median age at the onset of the disease was 8 months and the median age of diagnosis was 48 months, with a median diagnosis delay of 33 months. Almost all of the patients presented common infectious diseases, which were: pneumonia, otitis, diarrhea, sinusitis, and arthritis. During the course of illness, infections in the respiratory tract, gastrointestinal tract, central nervous system, and musculoskeletal system were seen in 93.9%, 75.8%, 33.3%, and 21.2% of XLA patients, respectively. The most common complications of these patients were chronic infections in 75.8% of them, including: chronic otitis media, chronic sinusitis, chronic diarrhea, and bronchiectasis.
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PMID:X-linked agammaglobulinemia: a survey of 33 Iranian patients. 1501 35

In human immunodeficiency virus infection as well as in related syndromes, cervico-facial and otorhino-laryngologic manifestations are current. A retrospective study in Oto-Rhino-Laryngology service of Brazzaville University Hospital from December 1995 to November 2001 has been reported. 253 patients were selected from a total of 1352 consultations. The study population is young (average age: 34 +/- 4.8 years), and most of the patients are 30 to 49 years old (75.9%). Men represent 51% and women 49%. Although sexual multipartnership (59.7%) is the main risk factor, traditional practices (22.8%) are not neglictible in Africa. Among all cases, human immunodeficiency virus type 1 is found in 72.3% of cases. The affections are located in the neck (40.5%), ear (24.9%), pharynx (17.3%), rhinosinus (13.3%), oral cavity and vestibule (2.7%) and larynx (1.3%). These main affections are represented by: parotidosis (20.1%), peripheric facial paralysis (15.4%), pharyngeal candidiasis (14.6%), sinusitis (14.2%) and ganglial tuberculosis (11.5%). Lymphoma (7 cases), kaposi's sarcoma (7 cases) and epidermoid carcinoma (1 case) are the malignant affections identified in 15 cases (6%). The diagnosis of some affections like cystic parotiditis (11%), noma (1.6%), African histoplasmosis (0.4%) and rhinoscleroma (0.4%) constitutes this study particularity The Oto-rhino-laryngologist's role is important in early diagnosis of HIV infection as well as in the followed-up of patients.
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PMID:[Cervico-facial and ENT symptoms due to HIV infection in tropical area. About 253 Congolese cases]. 1510 61


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