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)

Human immunodeficiency virus (HIV) infection and intestinal helminthiasis are common conditions in Nigeria. Chronic diarrhoea is a common manifestation of acquired immune deficiency syndrome ( AIDS). Helminths such as Strongyloides stercoralis and Trichuris trichiura may cause chronic diarrhoea especially in immunocompromised individuals. In order to determine whether any relationship exists between HIV infection and intestinal helminthiasis, stool samples from all HIV seropositive adults (with or without diarrhoea) admitted to the medical wards of the University of Nigeria Teaching Hospital, Enugu from August 1996 to October 1998 were examined microscopically for helminths. Out of 383 HIV-seropositive patients studied, 181 (47.26%) presented with chronic diarrhoea whereas 202 (52.74%) had no diarrhoea. The overall prevalence rate of gut helminths was 17.74%. The prevalence rate in the patients with chronic diarrhoea was 19.34% and that of those without chronic diarrhoea was 16.34%. The difference was not statistically significant. The helminths identified were Ascaris lumbricoides, Hookworm, Strongyloides stercoralis and Trichuris trichiura but there was no statistically significant difference in the two groups of patients. The study showed that there may be no clearcut relationship between gut helminths and HIV infection.
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PMID:Intestinal Helminths in relationship to Chronic Diarrhoea in Human Immunodeficiency Virus-Seropositive Adults in Enugu. 1216 80

Human strongyloidiasis is an intestinal helminthiasis that can be fatal particularly in cases of immunosuppression. The aim of this study is to assess the diagnostic accuracy of the detergent fraction (D), purified from total saline extract (SE) of Strongyloides venezuelensis, in the detection of anti-Strongyloides stercoralis IgG antibodies in serum samples from individuals coming from endemic areas for strongyloidiasis and presenting immunocompromised conditions: human immunodeficiency virus (HIV(+)), diabetes mellitus type 2, cancer, tuberculosis and alcoholism. Serum samples from 93 individuals were analyzed by ELISA, as follows: Group 1: 30 immunocompromised individuals with strongyloidiasis; Group 2: 33 immunocompromised individuals without strongyloidiasis and Group 3: 30 healthy individuals. The total saline extract (SE) and detergent fraction (D) showed a sensitivity of 73.33 and 83.33%, and specificity of 82.15 and 86.36%, respectively. The detergent fraction was effective to detect anti-S. stercoralis IgG antibodies in immunocompromised individuals with strongyloidiasis and may be applied as an important tool in the immunodiagnosis of human strongyloidiasis related to immunosuppression.
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PMID:The detergent fraction is effective in the detection of IgG anti-Strongyloides stercoralis in serum samples from immunocompromised individuals. 2509 31

Mutations in the CD40 ligand (CD40L) gene (CD40LG) lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels. Although most X-HIGM patients become symptomatic during the first or second year of life, during which they exhibit recurrent infections, some patients exhibit mild phenotypes, which are usually associated with hypomorphic mutations that do not abrogate protein expression or function. Here, we describe a 28-year-old man who initially presented with recurrent infections since the age of 7 years, when he exhibited meningitis caused by Cryptococcus neoformans. The patient had no family history of immunodeficiency, and based on clinical and laboratory presentation, he was initially diagnosed with common variable immunodeficiency (CVID). In subsequent years, he displayed several sporadic episodes of infection, including pneumonia, pharyngotonsillitis, acute otitis media, rhinosinusitis, fungal dermatosis, and intestinal helminthiasis. The evaluation of CD40L expression on the surface of activated CD3+CD4+ T cells from the patient showed decreased expression of CD40L. Genetic analysis revealed a novel de novo mutation consisting of a 6-nucleotide insertion in exon 1 of CD40LG, which confirmed the diagnosis of X-HIGM. In this report, we describe a novel mutation in the CD40L gene and highlight the complexities of PID diagnosis in light of atypical phenotypes and hypomorphic mutations as well as the importance of the differential diagnosis of PIDs.
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PMID:A Novel de Novo Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases. 2978 Jul 95