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)

The diagnoses which may be arrived at by examination of peroral small bowel mucosal biopsy specimens are presented. Celiac sprue, unclassified sprue (refractory sprue), infectious gastroenterititis, stasis syndrome and kwashiorkor have a severe mucosal lesion. Other clinical conditions are required to establish the diagnosis in these diseases. A number of diseases have specific diagnostic features. Included are Whipple's disease, abetalipoproteinemia, collagenous sprue, primary intestinal lymphoma, eosinophilic gastroenteritis, giardiasis, coccidiosis, strongyloidiasis, lymphangiectasis and the intestinal immunodeficiency diseases. Mucosal abnormalities may be present in other diseases but the diagnoses are usually made on other criteria than small bowel biopsy. These include vitamin B12 or folic acid deficiency, Crohn's disease, gastrinoma, acrodermatitis enteropathica, amyloidosis, chronic granulomatous disease, lipid storage diseases, histoplasmosis, capillariasis, cytomegalovirus infection, schistosomiasis and macroglobulinemia.
 ...
PMID:Histologic diagnosis of diseases of malabsorption. 51 56

Previous case reports have demonstrated that the intestinal pathology of Mycobacterium avium-intracellulare (MAI) infection in the acquired immune deficiency syndrome (AIDS) has a light microscopic appearance similar to Whipple's disease. This case report describes a 52-yr-old male patient with a clinical picture suggestive of AIDS, including diarrhea, weight loss, oral thrush, and intestinal cryptosporidiosis. The intestinal biopsy showed light microscopic features compatible with either MAI or Whipple's disease, but electron microscopy confirmed the presence of the Whipple bacillus. Markers of human immunodeficiency virus (HIV) infection were absent. Although immune abnormalities have been reported in Whipple's disease, this is the first report of opportunistic infections complicating this condition. A useful clinical pearl emerges from this and other cases: AIDS can mimic Whipple's disease; Whipple's disease can mimic AIDS.
 ...
PMID:Whipple's disease can mimic chronic AIDS enteropathy. 768 30

The author describes the morphological substrate and pathogenesis of the most common enteropathies (gluten enteropathy, collagen sprue, Whipple's disease, common variable immunodeficiency), discusses the potentials and limits of morphological methods for differential diagnosis of enteropathies, emphasizes the high informative value of duodenal biopsies that are as good as jejuno-biopsies. He considers it incompetent to use the term "chronic enteritis" which is widely spread in our country. The term stands for nosological diagnosis, making the treatment of patients worse.
 ...
PMID:[Clinical morphology of enteropathies]. 751 23

Review of the medical records of 43 patients with common variable immunodeficiency (CVID) and 23 patients with X-linked agammaglobulinemia (XLAG) revealed a high incidence of chronic gastrointestinal complaints, most commonly diarrhea. Thirty-eight biopsies, four small-bowel resection specimens, and one autopsy from 10 patients with CVID and one patient with XLAG showed a wide range of abnormalities. A pattern resembling acute graft-versus-host disease, with apoptotic bodies and lymphocytes in crypts, was seen in the stomach (four patients), small bowel (three patients), and colon (three patients). Small-bowel specimens from three CVID patients with malabsorption showed mild to severe villous atrophy. Three CVID patients had Giardia in biopsies. Two cases of small bowel lymphoma associated with nodular lymphoid hyperplasia were identified in CVID patients. One patient's small bowel contained foamy histiocytes in the lamina propria, resembling Whipple's disease or chronic granulomatous disease, with numerous apoptotic bodies in crypts. Ultrastructurally, the histiocytes contained cellular debris. The patient with XLAG had recurrent fissuring necrosis of small bowel resembling Crohn's disease; a patient with CVID had colitis with features similar to ulcerative colitis. Poorly formed granulomas were seen in the stomach (one CVID patient) and the colon (two CVID patients). Lymphocyte populations were dominated by T cells; B cells were scarce except in lymphoid follicles in CVID patients with nodular lymphoid hyperplasia. Patients with CVID and XLAG manifest a spectrum of abnormalities in the gastrointestinal tract, with patterns superficially resembling graft-versus-host disease, inflammatory bowel disease, and Whipple's disease, but often lacking some of the diagnostic features of the diseases. Many of the CVID patients with chronic gastrointestinal complaints (62%) also had evidence of autoimmune phenomena, suggesting that in some patients the inflammatory process in the gastrointestinal tract has an autoimmune component.
 ...
PMID:Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. 882 31

The small bowel has undergone intense study. Part I of this two-part review of the small bowel focuses on gastrointestinal peptides; intestinal infections and human immunodeficiency virus; drugs; intestinal growth-mucosal proliferation and differentiation; nucleic acids, nucleotides and nucleosides; vitamins and minerals; Whipple's disease; radiation; and early development.
 ...
PMID:Small bowel review--Part I. 911

Chloroquine (CQ) and its hydroxyl analogue hydroxychloroquine (HCQ) are weak bases with a half-century long use as antimalarial agents. Apart from this antimalarial activity, CQ and HCQ have gained interest in the field of other infectious diseases. One of the most interesting mechanisms of action is that CQ leads to alkalinisation of acid vesicles that inhibit the growth of several intracellular bacteria and fungi. The proof of concept of this effect was first used to restore intracellular pH allowing antibiotic efficacy for Coxiella burnetii, the agent of Q fever, and doxycycline plus HCQ is now the reference treatment for chronic Q fever. There is also strong evidence of a similar effect in vitro against Tropheryma whipplei, the agent of Whipple's disease, and a clinical trial is in progress. Other bacteria and fungi multiply in an acidic environment and encouraging in vitro data suggest that this concept may be generalised for all intracellular organisms that multiply in an acidic environment. For viruses, CQ led to inhibition of uncoating and/or alteration of post-translational modifications of newly synthesised proteins, especially inhibition of glycosylation. These effects have been well described in vitro for many viruses, with human immunodeficiency virus (HIV) being the most studied. Preliminary in vivo clinical trials suggest that CQ alone or in combination with antiretroviral drugs might represent an interesting way to treat HIV infection. In conclusion, our review re-emphasises the paradigm that activities mediated by lysosomotropic agents may offer an interesting weapon to face present and future infectious diseases worldwide.
 ...
PMID:Recycling of chloroquine and its hydroxyl analogue to face bacterial, fungal and viral infections in the 21st century. 1762 79

Overwhelming immune reaction resulting in granulomatous inflammation after infection with opportunistic pathogens has been termed immune reconstitution inflammatory syndrome (IRIS). IRIS has mainly been described in patients with human immunodeficiency virus (HIV). However, IRIS is not restricted to HIV-patients and may occur in other infections and immunodeficiencies. In our clinic, we experienced a Whipple's disease patient with IRIS. IRIS occurs mainly after initiation of the highly active anti-retroviral therapy (HAART). Soon after HAART initiation, a marked inflammatory reaction can occur, triggered by restoration of pathogen-specific immunity. IRIS may be targeted by various infective antigens, dead or dying infective antigens, host antigens, tumor antigens and other antigens, giving rise to a heterogenous range of clinical manifestations. Treatment should be optimized for the associated condition and initiated immediately. Glucocorticoids should be used in patients who are severely affected by IRIS.
 ...
PMID:[Immune reconstitution inflammatory syndrome (IRIS)]. 1848 Oct 72

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.
 ...
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