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)

Fever of unknown origin (FUO) in adults is defined as a temperature higher than 38.3 degrees C (100.9 degrees F) that lasts for more than three weeks with no obvious source despite appropriate investigation. The four categories of potential etiology of FUO are classic, nosocomial, immune deficient, and human immunodeficiency virus-related. The four subgroups of the differential diagnosis of FUO are infections, malignancies, autoimmune conditions, and miscellaneous. A thorough history, physical examination, and standard laboratory testing remain the basis of the initial evaluation of the patient with FUO. Newer diagnostic modalities, including updated serology, viral cultures, computed tomography, and magnetic resonance imaging, have important roles in the assessment of these patients.
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PMID:Approach to the adult patient with fever of unknown origin. 1467 67

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, nephrotic syndrome, and cell-mediated immunodeficiency. Mutations in the SMARCAL1 gene (SW1/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like1) cause SIOD. We report a patient with SIOD and SMARCAL1 mutations, who presented with fever of unknown origin secondary to B-cell lymphoma. To our knowledge, this is the first report of an SIOD patient with a primary lymphoproliferative disorder (LPD).
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PMID:Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. 1552 12

Fever of unknown origin has been defined as axillary temperature higher than 37.8 degrees C on several occasions, persisting without diagnosis for at least 3 weeks in spite of at least 1 week's investigation in hospital. Lately, the definition has been modified and extended to reflect evolutionary changes in clinical practice. In response to this new evolving environment, cases of fever of unknown origin are currently classified as: classic, nosocomial, in neutropenia, and human immunodeficiency virus-related. The objective of our review was to try and define and to update the information on the subject.
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PMID:[Fever of unknown origin in adults]. 1641 Sep 28

Granulomas in bone marrow are an infrequent finding and several diseases are associated with granuloma formation. Clinicopathological details of fourteen cases showing granulomas in bone marrow were studied. Fever was the commonest clinical presentation and anaemia was seen in all cases. Only one case showed epithelioid cells in the bone marrow aspirate smear while trephine biopsy was diagnostic in all cases. Granulomas were seen mainly in the paratrabecular space. Acid fast bacilli were demonstrated in five biopsies and serological test for Human Immunodeficiency virus was positive in five cases. Tuberculosis was more common in the present study as compared to others, probably due to the endemicity of tuberculosis in this region. Bone marrow biopsy is useful in the investigation of pyrexia of unknown origin as it leads to an aetiological diagnosis in most cases.
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PMID:Granulomas in bone marrow--a study of fourteen cases. 1675 75

Kaposi's sarcoma is a rare manifestation in children with human immunodeficiency virus (HIV) infection. It is mostly reported in children living in African countries. We describe a Taiwanese child who initially presented with fever of unknown origin and multiple hepatosplenic masses and in whom, after further investigations, the diagnosis turned to be an HIV infection with hepatosplenic Kaposi's sarcoma. She underwent splenectomy and received highly active anti-retroviral therapy with good clinical, virological and immunological responses.
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PMID:Hepatosplenic Kaposi's sarcoma as the initial presentation in a Taiwanese child with human immunodeficiency virus infection. 1762 8

Non-caseating epithelioid granulomas have been described in a small number of patients with common variable immunodeficiency (CVID). We report a 26-year-old woman diagnosed with CVID nine years earlier, who developed non-caseating granulomas in the liver, bone marrow and skin. She was referred to our department for a fever of more than one year duration without apparent focus. Extensive search for underlying malignancy or occult infection was unremarkable. Empirical treatment with prednisone was begun and the patient showed a marked improvement. The literature on the association between CVID and non-caseating granulomatous disease, and the differential diagnosis of hepatic granulomas as a cause of fever of unknown origin, is also reviewed.
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PMID:Fever of unknown origin in a patient with common variable immunodeficiency associated with multisystemic granulomatous disease. 1767 69

A 43-year-old African American man with known human immunodeficiency virus (HIV) infection was found to have adult-onset Still's disease manifesting as fever of unknown origin. In the era of highly active antiretroviral therapy, HIV-infected patients are preserving their immune status and, thus, must be evaluated in a manner similar to that for the general population.
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PMID:Adult-onset Still's disease presenting as fever of unknown origin in a patient with HIV infection. 1819 44

Bartonella henselae is the agent of cat-scratch disease (CSD), a chronic lymphadenopathy among children and adolescents. A systemic infection is very rare and most of these cases are found in patients with immunodeficiency. Here, cases involving four children of 6-12 years of age are reported. Three of the children had an abscess-forming lymphadenopathy and surrounding myositis in the clavicular region of the upper arm. The diagnosis was made serologically and, in one case, using eubacterial universal PCR. One child was treated with erythromycin for 10 days, the second received cefotaxime and flucloxacillin for 14 days and the third child was not treated with antibiotics. The fourth child had a different course: a significantly elevated signal intensity affecting the complete humerus was found in magnetic resonance imaging, consistent with osteomyelitis. A lymph node abscess was also found in the axilla. Diagnosis was established by indirect fluorescence assay and lymph node biopsy. Antibiotic therapy using clarithromycin, clindamycin and rifampicin was gradually successful. Immunodeficiency was excluded. All described lesions healed without residues. In immunocompetent patients, infection affects skin and draining lymph nodes; however, prolonged fever of unknown origin as in the fourth patient indicated a systemic complication of CSD.
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PMID:Abscess-forming lymphadenopathy and osteomyelitis in children with Bartonella henselae infection. 1834 75

Fever of unknown origin (FUO) is a common presentation for patients with advanced human immunodeficiency virus (HIV) infection and acquired immune deficiency syndrome (AIDS). We prospectively followed 72 patients, consecutively admitted to a Thai regional hospital with FUO and HIV infection to identify aetiologies and mortality in the era of available antiretroviral therapy (ART). Aetiologies of FUO were identified in 67 patients (93%), of whom 61(85%) had an infectious aetiology. The most common infectious aetiologies were Mycobacterium tuberculosis (n=30; 42%), Cryptococcus neoformans (n=17; 24%), Pneumocystis jiroveci (n=9; 13%), Toxoplasma gondii (n=5; 7%), and salmonella bacteraemia (n=5; 7%). Nineteen patients (26%) had co-infection with two or more pathogens. The median CD4 count was 120 cells/mm(3) (range, 1-581 cells/mm(3)), and the all-cause mortality was 22% (n=16). By multivariate analysis, inadequate antimicrobial treatment was the sole predictor of mortality (aOR=4.9; 95% CI=1.2-21.9; P=0.02). Overall, 58 of 72 patients (81%) had an opportunistic infection suggesting that guideline use of ART and prophylactic strategies remain unmet needs that will benefit individuals and populations with HIV/AIDS in Thailand.
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PMID:Fever of unknown origin in patients with HIV infection in Thailand: an observational study and review of the literature. 1848 40

Bloody stools, diarrhea and perianal abscesses were observed from the age of two months infant. The boy received a BCG vaccination at the age of four months. The patient was diagnosed as having Crohn's disease at the age of six months by intestinal endoscopy. Based on the diagnosis, he was treated with nutrition therapy, salazosulfapyridine, and prednisolone. Fever of unknown origin occurred two months after he had taken azathioprine at the age of two years and two months. Mycobacterium tuberculosis was detected from a gastric aspirate, and he was diagnosed as having disseminated BCG infection by means of the multiplex PCR method. Chest CT showed miliary pulmonary nodules in both lungs on admission. Physical examination revealed enlarged lymphnodes, which were palpable around the neck and groin, and hepatomegaly. Laboratory data were within normal ranges except a slightly increased peripheral white blood cell and serum CRP level. He was treated with rifampicin (15 mg/kg/day), isoniazid (15 mg/kg/day) for 12 months, and streptomycin (25 mg/kg/day) for two months. He became afebrile a week after starting the treatment, and the miliary pulmonary nodules in both lungs had disappeared by 5 months after starting the treatment. An abnormality of the NEMO gene, which is the gene responsible for ectodermal dysplasia and immunodeficiency, was identified at the age of three years. It is assumed that an abnormality of the NEMO gene caused a latent BCG infection over a period of one year and ten months, and immunosuppressive medicine (azathioprine) induced a disseminated BCG infection. This case report supports that anti-tuberculosis medicine should be given to prevent disseminated BCG infection if an infant who receive immunosuppressive therapy is found to have an immune deficiency characterized by a mycobacterium infection after BCG vaccination.
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PMID:[A case of disseminated BCG infection found during treatment of an infant with Crohn's disease]. 1976 66


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