Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 34-year-old woman presented with a history of fever, malaise and skin lesions. A diagnosis of Kaposi's sarcoma and acquired immunodeficiency syndrome (AIDS) was established, and in addition, the skin lesion which was biopsied also demonstrated cryptococcal infection. Disseminated cryptococcosis was later confirmed and the disease ran a florid course. The co-existence of different diseases within the same lesion is a feature of human immunodeficiency virus (HIV) infection, this being the third documented case of simultaneous Kaposi's sarcoma and cutaneous cryptococcosis occurring at the same site in a patient with AIDS. The nature of this co-existence is discussed with reference to the pathogenesis of Kaposi's sarcoma.
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PMID:Cutaneous cryptococcosis and Kaposi's sarcoma occurring in the same lesions in a patient with the acquired immunodeficiency syndrome. 885 42

Cryptococcus neoformans usually causes disease in patients with human immunodeficiency virus (HIV) infection. This descriptive study was based on a retrospective review of 33 HIV-uninfected patients with disseminated cryptococcosis from 1998 to 2005. An underlying condition associated with immunocompromise was documented in 30 patients (90.9%), including liver cirrhosis (36.4%), diabetes mellitus (33.3%) and autoimmune disease (27.3%). Disseminated cryptococcosis carried a high mortality rate in this series, reaching 63% overall, with a median survival of 21 days. All patients (12/12) with liver cirrhosis died within the first month after the diagnosis of cryptococcosis. Otherwise, high Acute Physiology and Chronic Health Evaluation II (APACHE II) score, female gender and smoking history were associated with worse one-month outcome.
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PMID:Disseminated cryptococcosis in HIV-uninfected patients. 1815 78

Disseminated cryptococcal infection is an uncommon initial manifestation in immunocompromised patients. We report a rare case of a 40-year-old female presenting with fever and burning epigastrium. Peripheral blood film revealed a leukoerythroblastic picture with thrombocytopenia. Bone marrow aspiration showed granulomas along with cryptococcal yeast forms. The ELISA test for detection of human immunodeficiency virus (HIV) antigen was positive. Disseminated cryptococcosis can develop as the first manifestation of HIV infection in previously healthy individuals and granulomas in such bone marrow aspiration smears are a valuable clue to an underlying opportunistic infection.
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PMID:HIV infection presenting as bone marrow cryptococcosis. 2516 91

Disseminated cryptococcosis is uncommon and almost always occurs in HIV-infected patients. However, cryptococcosis can also be found in patients of organ transplantation, in those on disease modifying agents for rheumatological conditions and in patients with underlying immunodeficiency. Cryptococcal infection may occur in an immunocompetent patient, but the pathogenic strain is usually Cryptococcus gattii, and not C. neoformans. However, disseminated disease, especially cerebral involvement in the form of primary intraventricular haemorrhage, is exceedingly rare. We report a case of disseminated cryptococcosis with cutaneous, cerebral and bone marrow involvement in an HIV-negative, apparently immunocompetent patient. Although the patient did not have the usual immunocompromising diseases, there were clinical signs possibly indicating a weakened immune system. This report highlights the need for awareness of disseminated cryptococcosis among patients with no apparent immunocompromising conditions.
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PMID:Disseminated cryptococcosis in an apparently immunocompetent patient presenting with primary intraventricular haemorrhage. 2649 14

X-linked hyper-IgM syndrome (XHIM) caused by CD40L mutations is a primary immunodeficiency condition that increases susceptibility to opportunistic infections. Disseminated cryptococcosis in XHIM is rarely reported in children. Here, we report two related boys who have a novel hemizygous frameshift c.208delC mutation of CD40L. They live in the western region of Thailand and developed disseminated cryptococcosis while receiving regular intravenous immunoglobulin supplementation.
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PMID:Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome. 3044 57