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)

Hyper IgM (HIGM) syndrome is an immunodeficiency that can lead to liver disease in more than 80% of affected males by an age of 20 years. Hepatitis, sclerosing cholangitis, and hepatocellular malignancies are common among them. We encountered two cases in children of less than 12 years who presented with typical manifestations of liver abscess and were later detected to have a concomitant underlying HIGM syndrome.
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PMID:Liver Abscesses and Hyper IgM Syndrome. 2447 81

Syphilis, a sexually transmitted infection caused by the spirochete Treponema pallidum, has seen a resurgence since 2001, particularly in men who have sex with men. Syphilis can affect the liver during the secondary stage as syphilitic hepatitis and during the tertiary stage as gummas. We describe 3 cases of syphilis in human immunodeficiency virus-positive homosexual men that presented as hepatic mass lesions clinically suspected of being malignant tumors. Histologically, 2 of the 3 cases showed a plump spindle cell proliferation, mixed inflammatory infiltrate with numerous neutrophils, and abscesses, whereas the third case showed granulomas and pericholangitis/cholangitis. Immunohistochemical staining for T. pallidum showed innumerable organisms in 2 of the cases. Pathologists must be aware of the possibility of syphilis causing hepatic inflammatory masses in human immunodeficiency virus-positive men who have sex with men in order to avoid misdiagnosis or delayed treatment.
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PMID:Syphilis presenting as inflammatory tumors of the liver in HIV-positive homosexual men. 2492 40

A 43-year-old man was admitted to our hospital because of diplopia, ptosis, and dysphagia that had begun three years previously. He was diagnosed with myasthenia gravis (MG) and invasive thymoma and treated with corticosteroid, thymectomy, and radiation therapy. Ten years after the thymectomy, computed tomography (CT) showed metastasis of the thymoma in the left lower lobe of the lung. Two years after this recurrence, when the patient was 55, respiratory symptoms such as wheezing, persistent cough, and dyspnea appeared. Chronic sinusitis, diffuse centrilobular opacities on CT, and positivity for HLA-B54 led to a diagnosis of diffuse panbronchiolitis (DPB). Despite treatment with clarithromycin, the respiratory symptoms worsened. The patient developed alopecia and body hair loss at the age of 56 followed by dysgeusia, cholangitis, and myositis with positivity for anti-Kv1.4 antibodies. Although treatment with an increased dose of corticosteroid improved hair loss, dysgeusia, cholangitis, and myositis, he died of progression of DPB and serious respiratory infection at the age of 58. In this case, various autoimmune disorders occurred together with MG as complications of thymoma. Although alopecia, dysgeusia, and myositis are already known as complications of MG associated with thymoma, cholangitis is not well-recognized since there have been few reports suggesting a causal relationship between cholangitis and thymoma. Furthermore, DPB caused by immunodeficiency and respiratory tract hypersensitivity associated with thymoma and HLA-B54, respectively, is the distinctive feature of our case. Neurologists should be aware that various organs can be damaged directly and indirectly by abnormal T cells from thymoma in patients with MG.
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PMID:[A case of myasthenia gravis with invasive thymoma associated with diffuse panbronchiolitis, alopecia, dysgeusia, cholangitis and myositis]. 2528 23

Objectives Platynosomum species are cat-specific parasitic trematodes that parasitize the biliary ducts and gall bladder. Due to the common connection to the major duodenal papilla of the pancreas and common bile ducts in addition to the periductal proximity of the pancreas, it is possible that platynosomosis could cause pancreatitis. The objective of this study was to determine whether platynosomosis, a commonly diagnosed parasitic disease in cats on St Kitts, has any association with pancreatic disease. Methods To investigate this possibility, the pancreas of free-roaming cats with naturally acquired platynosomosis were evaluated via ultrasound, serum concentrations of feline pancreatic lipase (fPL), cobalamin, folate and feline trypsin-like immunoreactivity (fTLI) and histopathology. Twenty free-roaming, young adult, feral cats, positive for feline immunodeficiency virus, and diagnosed with Platynosomum species infection via fecal analysis were recruited. The liver, biliary system and pancreas were evaluated via ultrasonography during a short duration anesthesia. Serum concentrations of fPL, fTLI, folate and cobalamin were measured. Sections of the right limb, left limb and body of the pancreas were evaluated histopathologically using hematoxylin and eosin (H&E) stain. Results None of the cats had sufficient criteria to fulfill the ultrasonographic diagnosis of pancreatitis. One cat had an elevated fPL concentration in the range consistent with pancreatitis. Four cats had cobalamin deficiencies and 11 had abnormal folate concentration. The fTLI concentration was equivocal for the diagnosis of exocrine pancreatic insufficiency in one cat. With a single exception, histopathology changes, when present (n = 12), were mild, non-specific and predominantly characterized by lymphocytic infiltrates and fibrosis. The exception was a cat that presented a chronic interstitial and eosinophilic pancreatitis of slightly increased severity, likely the result of platynosomosis. Conclusions and relevance The results of this study suggest that platynosomosis rarely induces pancreatic damage in cats. With only one exception, chronic pancreatitis diagnosed in cats with fluke-induced cholangitis and cholangiohepatitis was subtle and interpreted as an incidental background lesion unrelated to platynosomosis.
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PMID:Diagnosis of pancreatic disease in feline platynosomosis. 2809 61

Primary Biliary Cholangitis, previously known as Primary Biliary Cirrhosis, is a rare disease, which mainly affects women in their fifth to seventh decades of life. It is a chronic autoimmune disease characterized by a progressive damage of interlobular bile ducts leading to ductopenia, chronic cholestasis and bile acids retention. Even if the disease usually presents a long asymptomatic phase and a slow progression, in many patients it may progress faster toward cirrhosis and its complications. The 10year mortality is greater than in diseases such as human immunodeficiency virus/Hepatitis C Virus coinfection and breast cancer. Ursodeoxycholic acid is the only treatment available today, but even if effective in counteracting the disease progression for the majority of patients, in approximately 40% is not able to decrease effectively the alkaline phosphatase, a surrogate marker of disease activity. Recently, obeticholic acid received the European Medicines Agency conditional approval, as add on treatment in patients non responders or intolerant to ursodeoxycholic acid. The present paper illustrates the opinion of a working group, composed by clinical pharmacologists, gastroenterologists/hepatologists with specific expertise on Primary Biliary Cholangitis and patient associations, on the state of the art and future perspectives of the disease management. The agreement on the document was reached through an Expert Meeting.
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PMID:Primary Biliary Cholangitis: advances in management and treatment of the disease. 2854 61

We report a case of ileo-colonic Histoplasmosis without apparent respiratory involvement in a patient who had previously undergone an orthotopic liver transplant (OLT) for primary biliary cholangitis 15 years earlier. The recipient lived in the United Kingdom, a non-endemic region for Histoplasmosis. However, she had previously lived in rural southern Africa prior to her OLT. The patient presented with iron deficiency anaemia, diarrhoea, abdominal pain and progressive weight loss. She reported no previous foreign travel, however, it later became known that following her OLT she had been on holiday to rural southern Africa. On investigation, a mild granulomatous colitis primarily affecting the right colon was identified, that initially improved with mesalazine. Her symptoms worsened after 18 mo with progressive ulceration of her distal small bowel and right colon. Mycobacterial, Yersinia, cytomegalovirus and human immunodeficiency virus infections were excluded and the patient was treated with prednisolone for a working diagnosis of Crohn's disease. Despite some early symptom improvement following steroids, there was subsequent deterioration with the patient developing gram-negative sepsis and multi-organ failure, leading to her death. Post-mortem examination revealed that her ileo-colonic inflammation was caused by Histoplasmosis.
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PMID:Fatal gastrointestinal histoplasmosis 15 years after orthotopic liver transplantation. 2920 21

Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand gene. The CD40 ligand has been recently highlighted as playing a key role in the pathogenesis of primary biliary cholangitis. In the present study, we assessed an extensive set of serum autoantibodies in a series of well-defined patients with hyper-immunoglobulin M syndrome. Serum, liver-related and liver-not-related autoantibodies IgG, IgM and IgA were tested by ELISA and standard indirect immunofluorescence in HEp-2 cells in 13 Tunisian patients (8 males and 5 females, aged 1-12 years) with hyper-immunoglobulin M syndrome during 1995-2012 and, as controls, 21 age- and gender-matched blood donors. The level of IgM antibody against MIT3 was significantly higher in patients than in controls (35.8 vs 10.7, P=0.002). Half of the hyperimmunoglobulin M syndrome patients were found to be anti-MIT3 IgM positive vs none of the controls (P<0.0001). Twenty-three percent of patients were found to be anti-sp100 antibody positive vs only 0.05% of controls. By immunofluorescence, 92.3% of patients were MIT3 IgM positive vs none of the controls. In conclusion, the IgM class of anti-MIT3 antibodies was shown to be present by both ELISA and immunofluorescence in most of the patients with hyper-immunoglobulin M syndrome. The presence of the hallmark of primary biliary cholangitis, a disease where the CD40 ligand is a key player, in an immunodeficiency disease caused by mutations in the CD40 ligand gene is very intriguing and opens new scenarios in understanding the immune pathogenesis of primary biliary cholangitis.
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PMID:Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. 2940 Jul 3

Cryptosporidium spp. is one of the leading causes of parasitic diarrhea. It is the most common parasite in humans all over the world with Giardia. Cryptosporidium is an important cause of chronic diarrhea in Human Immunodeficiency Virus (HIV)/Acquired Immunodeficiency Syndrome (AIDS) patients. Patients with normal immune system may have an asymptomatic course or clinical presentation such as acute watery diarrhea without blood and persistent diarrhea. The severity and duration of the disease may be a reflection of the immune deficiency. Children under two years of age and children with malnutrition may have a risk of prolonged Cryptosporidium spp. infection, even if immunodeficiency work-up is normal, as they may have defects in the natural immune system and lymphocyte functions. Cryptosporidium spp. oocysts contaminate water sources, swimming pools, vegetables and fruits because oocysts are partially resistant to chlorination. So it may be problem for public health. Pets, livestock and humans can be carriers of Cryptosporidium spp. Factors such as developmental level of the countries, immune system, nutritional status, living in crowded environments, contact with contaminated water, close contact with animals, working at a hospital and hot and humid climate affect the incidence of Cryptosporidiosis. Cryptosporidium spp. may cause asymptomatic infection, mild diarrheal disease or severe diarrhea with high volume, which may be accompanied by nausea, vomiting, abdominal pain and fever, following a 1-7 day incubation period. Diarrhea may be acute or chronic, transient, intermittent, or continuous; loss of fluid can be up to 25 L/day in severe diarrhea. Cryptosporidium spp. are mainly located in intestines, but non-intestinal (bile ducts, pancreas, stomach, respiratory system, kidney) involvement may occur in immunocompromised patients. Hepatobiliary system involvement occurs in 10-30% of patients with AIDS; stone-free cholecystitis can lead to sclerosing cholangitis and pancreatitis. Hepatobiliary involvement is not expected in patients without immunodeficiency. In this article, we present a case of Cryptosporodiosis with hepatobiliary system involvement who were admitted to the pediatric emergency clinic with the complaints of severe diarrhea and Cryptosporidium spp. oocysts were detected in parasitological examination of the stool specimen. Immunodeficiency was not considered with her resume and laboratuary examinations. We would like to emphasize that Cryptosporodium spp. may be the cause of severe acute diarrhea in non-immunocompromised patients and may also involve hepatobiliary system involvement.
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PMID:[A Rare Complication of Acute Diarrhae Caused by Cryptosporidium: Possible Hepatobiliary System Involvement in a Child without Immunodeficiency]. 3170 44


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