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 report three infants and one teenager with fatal virus-associated haemophagocytic syndrome (VAHS). Two infants were admitted to our hospital because of cardio-pulmonary arrest (CPA). The third infant was admitted to our department because of fever and liver dysfunction, and he was diagnosed as combined immunodeficiency with predominant T cell defect. The teenager was diagnosed as systemic lupus erythema (SLE) when she was 10 years old and admitted to our department because of fever and thrombocytopenia . The histological findings for the four patients' organs revealed many haemophagocytic cells . The patients were infected by Parainfluenza virus type 2 (PIV2), Enterovirus (EV), Cytomegalovirus (CMV), and Epstein-Barr virus (EBV), respectively. Their laboratory data revealed elevated levels of ferritin and IL-6, which also suggested virus-associated haemophagocytic syndrome (VAHS). Although aggressive therapies were performed in all cases, the outcome was fatal. Further investigation would be needed to clarify the mechanism of VAHS and an effective therapeutic regimen is needed.
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PMID:Virological and immunological characteristics of fatal virus-associated haemophagocytic syndrome (VAHS). 1723 99

Although most persons with parvovirus B19 infection are asymptomatic or have mild, nonspecific, cold-like symptoms, several clinical conditions have been linked to the virus. Parvovirus B19 usually infects children and causes the classic "slapped-cheek" rash of erythema infectiosum (fifth disease). The virus is highly infectious and spreads mainly through respiratory droplets. By the time the rash appears, the virus is no longer infectious. The virus also may cause acute or persistent arthropathy and papular, purpuric eruptions on the hands and feet ("gloves and socks" syndrome) in adults. Parvovirus B19 infection can trigger an acute cessation of red blood cell production, causing transient aplastic crisis, chronic red cell aplasia, hydrops fetalis, or congenital anemia. This is even more likely in patients with illnesses that have already shortened the lifespan of erythrocytes (e.g., iron deficiency anemia, human immunodeficiency virus, sickle cell disease, thalassemia, spherocytosis). A clinical diagnosis can be made without laboratory confirmation if erythema infectiosum is present. If laboratory confirmation is needed, serum immunoglobulin M testing is recommended for immunocompetent patients; viral DNA testing is recommended for patients in aplastic crisis and for those who are immunocompromised. Treatment is usually supportive, although some patients may require transfusions or intravenous immune globulin therapy. Most patients recover completely.
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PMID:Clinical presentations of parvovirus B19 infection. 1730 69

Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, inherited immunodeficiency that affects 1 in 1 million people yearly and usually presents with recurrent, indolent bacterial infections of the skin, mouth, and respiratory tract and impaired pus formation and wound healing. Features of this disease result from mutations in the region of the CD18 gene, which is encoded on chromosome 21q22.3. This gene codes for the common subunit of the leukocyte integrins LFA-1, Mac 1, and p150,95. Failure to produce a functional subunit results in the defective expression of all 3 leukocyte integrins, and the leukocytes of LAD have subnormal adhesion properties. We present a case of the moderate-to-severe form of LAD in a 3-year-old girl who initially presented with generalized swelling and erythema of the gingiva, with slight tooth mobility and a nonhealing labial ulceration. Her medical history was significant for recurrent urinary tract infections. Periodontal pathogens, including Capnocytophaga, Eikenella corrodens, and Candida albicans, were cultured. The patient had a significantly elevated white blood cell count and absolute neutrophil count. The diagnosis of LAD was confirmed with flow cytometry, which revealed significantly decreased subunits. Twenty-four months after the diagnosis was made and after a series of granulocyte transfusions and bone marrow transplantations, she expired as the result of respiratory failure.
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PMID:Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. 1761 38

Erythrovirus (parvovirus) B19 (B19) is a common human pathogen. It is a non-enveloped single-strand DNA virus packaging its genome in small tight capsids consisting of viral VP1 and VP2 proteins. It is now accepted that B19 is a relatively quickly evolving virus having diverged in several genetic variants recently identified. The main route of B19 transmission is respiratory, with a majority of infections occurring during childhood and manifesting as erythema infectiousum. B19 can also be transmitted vertically and via blood transfusion and organ transplantation. The majority of adult populations show immunological evidence of previous exposure to B19. Although the immune response is able to clear infection and provide life-long protection against B19, recent data suggest that in some, if not the majority, of individuals the acute phase of infection is followed by viral persistence in the blood or other tissues regardless of the host's immunocompetence. Transmission of B19 by blood and blood products and its resistance to common viral inactivation methods raises several blood safety questions, still unanswered. The diversity of B19 strains and the ability of the virus to persist in the presence of specific antibodies raise the issue of transmissibility by transfusion not so much to immunocompetent recipients but rather to the large proportion of recipients in whom there is some degree of immunodeficiency. The ability of the virus to reactivate in immunodeficient recipients may create difficulties in differentiating between transfusion transmission and reactivation.
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PMID:Human erythrovirus B19 and blood transfusion - an update. 1768 Sep 52

A series of 18 allergic cats with multifocal Malassezia spp. overgrowth is reported: atopic dermatitis was diagnosed in 16, an adverse food reaction in another and one was euthanized 2 months after diagnosis of Malassezia overgrowth. All the cats were otherwise healthy and those tested (16 out of 18) for feline leukaemia or feline immunodeficiency virus infections were all negative. At dermatological examination, multifocal alopecia, erythema, crusting and greasy adherent brownish scales were variably distributed on all cats. Cytological examination revealed Malassezia spp. overgrowth with/without bacterial infection in facial skin (n = 11), ventral neck (n = 6), abdomen (n = 6), ear canal (n = 4), chin (n = 2), ear pinnae (n = 2), interdigital (n = 1) and claw folds skin (n = 1). Moreover, in two cats Malassezia pachydermatis was isolated in fungal cultures from lesional skin. Azoles therapy alone was prescribed in seven, azoles and antibacterial therapy in eight and azoles with both antibacterial and anti-inflammatory therapy in three of the cats. After 3-4 weeks of treatment, substantial reduction of pruritus and skin lesions was observed in all 11 cats treated with a combined therapy and in five of seven treated solely with azoles. Malassezia spp. overgrowth may represent a secondary cutaneous problem in allergic cats particularly in those presented for dermatological examination displaying greasy adherent brownish scales. The favourable response to treatment with antifungal treatments alone suggests that, as in dogs, Malassezia spp. may be partly responsible for both pruritus and cutaneous lesions in allergic cats.
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PMID:Malassezia spp. overgrowth in allergic cats. 1784 19

A 30-year-old female patient presented to us with erythema over the face and raised hyperpigmented, scaly skin lesions, mainly over photo-exposed parts, of about 5-month duration. Based on her clinical features and initial laboratory finding, we considered the possibility of a connective tissue disease. On further follow-up, she was found to be human immunodeficiency virus positive (confirmed by Western blot).
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PMID:Hiv and lupus erythematosus: a diagnostic dilemma. 1988 93

Duodenal infection by Mycobacterium avium-intracellulare is a common opportunistic disease in HIV-infected patients. Individuals with CD4 counts <50 cells/mm3 are at highest risk. The main symptoms are diarrhea, abdominal pain, weight loss, and fever. Endoscopic examination shows various abnormalities including disseminated nodules that may be yellowish, whitish, or pinkish in color. Other mucosal lesions may be found such as erosion, erythema, or friable edematous aspect. Since these findings are non-specific, it is important to obtain biopsy specimens for histological and microbiological examination. The most common histologic features are atrophic mucosa resembling Whipple's disease with strongly positive PAS staining. The presence of BARR in macrophages is typical of MAI. Diagnosis is based on identification of the bacteria using either conventional culture techniques or polymerase chain reaction (PCR). Differential diagnosis includes other gastrointestinal infections associated with AIDS, i.e., microsporidiosis, cryptosporidiosis, giardiosis, anguillulosis, CMV, and isoporosis. The course of the disease is usually unfavorable even with antibiotic treatment. The purpose of this report is to describe a case of duodenitis due to atypical mycobacterial infection in a 30-year-old woman who was seropositive for human immunodeficiency virus. She was hospitalized due to fever with deterioration of her general condition (more than 10% of body weight loss) and chronic abdominal pain with inflammation. Diagnosis of MAI was confirmed by biopsy and Ziehl-Neelsen coloration. The patient was treated with rifampicine, isoniazide, ethambutol, and pyrazinamide in association with stavudine, lamuvidine and efavirenz. Despite improvement of general condition, fever persisted and the patient died after 40 days of treatment.
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PMID:[Chronic abdominal pain and fever in an Ivoirian woman: Mycobacterium avium-intracellulare duodenitis in an AIDS patient in Abidjan, Cote d'Ivoire]. 2009 79

Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.
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PMID:Bloom syndrome in two siblings. 2053 70

Lipoatrophy is a condition that affects certain individuals, most commonly those who are infected with the human immunodeficiency virus.(1-3) Injectable fillers are used for the treatment of these dermal contour deformities to smooth dermal depressions formed by the loss of volume. These dermal fillers (also known as soft tissue augmentation devices) can correct contour deformities caused by lipoatrophy in patients who are human immunodeficiency virus positive or negative. The product used in this study is a patented, second-generation, injectable, dermal collagen stimulator that combines glycolic acid and polylactic acid. The glycolic acid used is not a polymer, but rather an acid derived from sugar cane. Its chemical structure corresponds to that of an alpha-hydroxy acid. Glycolic acid is a well-characterized agent that is present in a number of cosmetic products. Polylactic acid is a synthetic, biocompatible, biodegradable, inert, synthetic polymer from the poly a-hydroxy-acid family that is believed to stimulate fibroblasts to produce more collagen, thus increasing facial volume. Together, polylactic acid and glycolic acid act in concert to 1) stimulate collagen production and 2) hydrate the outer layers of the skin. A multicenter, clinical investigation authorized by the Mexican Secretariat of Health was conducted between September 20, 2002, and September 19, 2004. This clinical study was conducted in male patients between 32 and 60 years of age with lipoatrophy as a result of highly active antiretroviral therapy for human immunodeficiency virus infection. The study objective was to measure the improvement of contour deformities after the injection of a dermal collagen stimulator containing glycolic acid and polylactic acid. In addition to safety, this dermal filler was assessed when used to correct volume deformities caused by lipoatrophy in subjects who are human immunodeficiency virus positive. Thirty male subjects participated and were treated as follows: seven in two sessions, eight in three sessions, 14 in four sessions, and one in five sessions. Each treatment session was separated by approximately 20 days as per the manufacturer's instructions. The follow-up phase consisted of four observation periods over two years from the last injection. The primary efficacy endpoint was measurement of correction of human immunodeficiency virus highly active antiretroviral therapy induced facial lipoatrophy. Using a multipoint scale of facial divergence, correction was measured as a percentage of correction (diversion correction percentage) from baseline. A secondary endpoint was safety based upon the incidence and type of adverse events experienced. All 30 patients completed the active treatment phase with 100 percent (N=30) undergoing at least two treatments at Days 1 and 20 after entry into study. Seventy-four percent (n=23) underwent a third treatment at Day 60, and 50 percent (n=15) received a fourth treatment at Day 80. A single subject received a fifth treatment at Day 100. There were no serious adverse events and no adverse events noted during the study period. Histology through skin biopsy (2mm punch) was performed on 10 subjects, and all subjects had dermal skin thickness measured with ultrasound. Histology demonstrated a foreign body reaction with multinucleated giant cells with phagocytized lactate crystals. New collagen formation was demonstrated. United States measurements of dermal skin thickness increase ranged from 0.22cm to 0.37cm. All subjects were rated for expected injection events to include erythema, edema, ecchymosis, and hematoma. This dermal collagen stimulator containing glycolic acid and polylactic acid represents a tangible alternative in therapeutic and aesthetic medicine. More than four years of clinical trials have demonstrated that this dermal collagen stimulator helps to improve the exterior quality of the skin while restoring lost facial volumes. Patient satisfaction was high due to its effectiveness and long-lasting results, which in some cases have lasted more than two years.
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PMID:Clinical performance of a dermal filler containing natural glycolic Acid and a polylactic Acid polymer: results of a clinical trial in human immunodeficiency virus subjects with facial lipoatrophy. 2072 61

Most patients with anorectal abscess are diagnosed clinically based on pain, erythema, warmth, and fluctuance. Some patients, however, present with subtle or atypical signs. CT is easily accessible and is commonly used for diagnosis and delineation of anorectal abscess. The purpose of this study is to determine the sensitivity of CT scan in detecting perirectal abscesses and to see if immune status impacts the accuracy of CT. A retrospective study was conducted to identify patients from 2000 to 2009 with International Classification of Diseases, 9th Revision code 566 (anal or rectal abscess). Patients included had a CT scan less than 48 hours before drainage. Patients with CT-positive abscess were compared with patients with CT-negative abscess. Patients were categorized as either immunocompetent or immunosuppressed based on documentation of diabetes mellitus, cancer, human immunodeficiency virus, or end-stage renal disease. One hundred thirteen patients were included in this study. Seventy-four (65.5%) were male and the average age was 47 years. Eighty-seven of 113 (77%) patients were positive on CT for anorectal abscess. Sixty of 113 (53%) patients included in this study were immunocompromised. CT missed 26 of 113 (23%) patients with confirmed perirectal abscess. Eighteen (69%) of these patients were immunocompromised compared with CT-positive patients (42 [48%], P = 0.05). The overall sensitivity of CT in identifying abscess was 77 per cent. CT lacks sensitivity in detecting perirectal abscess, particularly in the immunocompromised patient.
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PMID:Sensitivity of computed tomography in detection of perirectal abscess. 2133 73


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