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)

We describe here a 3-year-old girl demonstrating combined cellular immunodeficiency of B- and T-cells, pancytopenia, multiple anomalies, and severe mental retardation. Cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q and 11q, resulting in monosomy 11q23.3-qter and trisomy 8q24.3-qter. The association of cellular immunodeficiency and partial deletion 11q and/or partial trisomy 8q has not been described previously; however, the 11q deletion has been reported with humoral immunodeficiency or pancytopenia. Some one-third to one-half of patients with partial monosomy 11q were reported to have pancytopenia, which has been related to the absence of the 11q23-q24 region. Our case narrows down the critical interval for thrombo- or pancytopenia to 11q23.3-q24 and excludes both the ATM (which resides on 11q23.1) and the MLL genes as possible candidate genes. We are proposing that haploinsufficiency of the NFRKB gene on 11q24-q25 and/or the ETS-1 proto-oncogene on 11q24 may have caused or contributed to the immunodeficiency (decreased levels of B- and T-lymphocytes) in our patient.
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PMID:Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter. 1192 Aug 39

We describe a patient with transient disappearance of B-cells, hypogammaglobulinemia, and mild pancytopenia after acute hepatitis. Both HLA-DR+CD8+ and intracellular interferon-gamma+/interleukin-4- cell levels were markedly increased, resulting in an increase in the cytotoxic T-cell (T(C))1/Tc2 and helper T-cell (T(H))1/T(H)2 ratios. After immunosuppressive therapy with cyclosporine A, these parameters of T-cell activation were clearly decreased, and hematologic recovery, including an increase in B-lymphocytes and immunoglobulin concentration, was obtained. These results suggest that there had been suppression of B-cells by activated T-cells. Some patients with common variable immunodeficiency show similar activation of T-cell function, and the present findings suggest the possibility of immunosuppressive therapy for such patients.
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PMID:Successful immunosuppressive therapy with cyclosporine A for posthepatitis B-cell deficiency with activated cytoplasmic interferon--gamma-positive T-lymphocytes. 1199 57

The role of bone marrow examination in the diagnosis of prolonged fever in patients with human immunodeficiency virus infection remains controversial. This study compared the results of bone marrow examination and blood culture in the evaluation of opportunistic infections in 100 patients with acquired immunodeficiency syndrome who presented with prolonged fever and/or pancytopenia from November 1995 through August 1998. Bone marrow and blood specimens were routinely submitted for bacterial, mycobacterial, and fungal cultures, and histopathological examination of the bone marrow specimens was also performed. A total of 33 cases of disseminated mycobacterial infections and 17 cases of disseminated fungal infections were identified. Fifteen cases of mycobacterial infection and 8 cases of fungal infection were identified by using bone marrow culture. The causative organisms included Mycobacterium avium complex (9 isolates), Mycobacterium tuberculosis (4), Mycobacterium chelonae (1), Mycobacterium kansasii (1), Cryptococcus neoformans (3), and Penicillium marneffei (5). Granulomas were seen in only 8 of 33 disseminated mycobacterial infections, and acid-fast bacilli were detected in only 4 patients. Although bone marrow culture did not provide a significantly higher diagnostic yield than blood culture, bone marrow culture plus histopathological examination had a higher diagnostic yield than blood culture alone for patients with disseminated mycobacteriosis. This study demonstrated that bone marrow examination provides an additional aid in the diagnosis of disseminated mycobacterial or fungal infections in patients with human immunodeficiency virus who had prolonged fever.
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PMID:Comparison of bone marrow studies with blood culture for etiological diagnosis of disseminated mycobacterial and fungal infection in patients with acquired immunodeficiency syndrome. 1209 41

The clinical course and the postmortal pathological findings in a female newborn showing parental consanguinity are presented. One week afterbirth, the infant developed fever, hepatosplenomegaly and polyserositis. Rapidly progressing immunodeficiency due to pancytopenia led to pneumonia and untreatable respiratory distress with fatal outcome after 2 weeks. Autopsy findings revealed multisystem lymphohistiocytic infiltration with marked erythrophagocytosis. Neuropathological findings included lymphohistiocytic leptomeningitis, perivascular cuffing by lymphohistiocytic infiltrations in the cerebral white matter, predominantly in subependymal location, and multifocal lymphohistiocytic infiltrations of the cerebral grey matter and the cervical spinal cord. Erythrophagocytosis was the histopathological hallmark at all sites. Regarding the fatal clinical course, the medical history of parental consanguinity and the histopathological features, postmortem diagnosis was familial erythrophagocytic lymphohistiocytosis (FEL, Farquhar's disease). The present case is discussed with focus on CNS involvement in FEL by reviewing the relevant literature.
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PMID:Familial erythrophagocytic lymphohistiocytosis (Farquhar's disease): involvement of the central nervous system. 1214 24

The visceral form of leishmaniasis caused by Leishmania infantum is frequently observed in Mediterranean countries, however otorhinolaryngeal involvement has only rarely been reported in the literature. We report here the case of a 23-year-old Cameroon man, resident in France since 1991, and presenting with recurrent epistaxis and an epiglottis tumoral lesion. The visceral form of leishmaniasis with hepatosplenomegaly and pancytopenia was diagnosed. Culture of the epiglottal lesion revealed L. infantum. Serological test for human immunodeficiency virus was negative and the patient was not on immunosuppressive drugs. Dramatic improvement was observed with antimony.
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PMID:Epiglottis involvement in a visceral leishmaniasis. 1238 77

We describe the case of a patient treated with 2-chloro-2'-deoxyadenosine, CdA or Cladribine for hairy cell leukemia who subsequently developed an Epstein Barr virus (EBV)-positive polymorphous large B-cell lymphoma (p-LBCL). The time interval between Cladribine therapy and development of p-BCL was 11 months and morphologically resembled an EBV-positive post transplant lymphoproliferative disorder (PTLD). Molecular genetic studies for EBV-clonality by Southern blot hybridization showed a clonal population of infected cells, implying that this was an EBV induced lesion. The chronology of events suggest that Cladribine, a purine analog which has been previously described to induce long-lasting immunodeficiency, can, in some cases, weaken the host defense mechanism to a level at which an innocuous EBV infection may transform the normal lymphoid cells into an aggressive neoplasm. Unlike most methotrexate-related lymphoproliferative disorders (LPDs), which undergo spontaneous remission after discontinuation of therapy, LPDs secondary to purine analogs often fails to resolve after discontinuation of therapy and requires additional therapy. Our patient was treated with rituximab following the diagnosis of p-LBCL, with the goal of improving the pancytopenia to permit chemotherapy. However, the patient failed to show any dramatic improvements in counts, developed systemic symptoms and progressive ascites. He expired 3 weeks after a second dose of rituximab. Cladribine is a potent immunosuppressive agent and should be included with the list of immunosuppressive agents that may be associated with EBV-related B-cell lymphoproliferative disorders.
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PMID:Epstein-Barr virus positive large B-cell lymphoma arising in a patient previously treated with Cladribine for hairy cell leukemia. 1529 65

Unlike mucocutaneous infections, disseminated herpes simplex virus infections are rare and often fatal owing to acute liver failure (ALF). Typically, the course of the disease is rapid and the lack of specific symptoms may result in delay in diagnosis. This study reports a case of genital herpes caused by herpes simplex-type 2 that resulted in ALF. The patient was a 24-y-old woman with a 1 y history of Crohn's disease, treated with oral prednisolone. She was hospitalized with fatigue, anorexia and abdominal pain. Blood tests showed pancytopenia, renal failure and coagulopathy. Pelvic examination revealed signs of severe colpitis and prompt therapy with parenteral acyclovir was initiated. Despite the early institution of antiviral therapy, progressive hepatic coma, gastrointestinal bleeding, oliguria and severe intracranial hypertension characterized the clinical course. The patient received intensive supportive care and recovered without liver grafting. A subsequent screening for immunodeficiency diseases revealed an immeasurable blood mannose-binding lectin (MBL) concentration. 10 weeks after admission, she was discharged for further rehabilitation. This case stresses the importance of suspecting disseminated herpes virus infection in patients with ALF without known aetiology as it may secure prompt initiation of antiviral therapy and reduce the risk that transplantation is needed for survival.
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PMID:A case of acute liver failure caused by herpes simplex type 2. 1530 95

Common variable immunodeficiency (CVID) is a heterogeneous immunodeficiency that is accompanied by granulomatous lesions in 5-10% of cases. Why some patients develop granulomatous disease remains unclear. Here we describe a 12-year-old previously healthy girl who presented with pancytopenia and granulomatous lymphoproliferation subsequent to infection with Toxoplasma gondii. Loosely arranged non-fibrosing granulomas were observed in the liver, lymph nodes and lung, but no Toxoplasma tachyzoites could be demonstrated and polymerase chain reaction (PCR) and culture were negative for Toxoplasma and a wide range of other pathogens. While the patient had a normal peripheral B cell status at presentation, the development of CVID could be observed during the following months, leading to a loss of memory B cells. This was accompanied by an increasingly activated CD4(+) T cell compartment and high serum levels of angiotensin-converting enzyme (ACE), tumour necrosis factor (TNF) and sCD25. Steroid therapy reduced pancytopenia, granulomatous lymphoproliferation and cytokine elevations, but did not improve the B cell status. This is the first report of an association of Toxoplasma infection with granulomatous CVID and provides one of the rare examples where the onset of CVID could be documented subsequent to an infectious disease.
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PMID:Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii. 1532 Sep 9

We describe a patient with human immunodeficiency virus type-1 (HIV) infection and alveolar echinococcosis (AE) with a focus on two messages. Despite being severely immunocompromised over years the patient exhibited a long-term asymptomatic course of AE. This is in clear contrast to reports describing accelerated courses of AE in immunocompromised patients. The patient had therapeutic mebendazole drug levels with only 1/10 of the normal drug dose. He was co-treated with protease inhibitors for his HIV infection. These drugs are known as strong inhibitors of cytochrome P450 3A4 (CYP3A4)-dependent metabolism. We speculate that benzimidazoles and protease inhibitors interfere at the CYP3A4-level. The first report of co-infection of HIV and accelerated AE was in a young girl with an extremely low CD4 cell count and an abrogated lymphoproliferative responsiveness to parasite antigen stimulation. Since the CD4 cell count in our patient remained in the range of 27-150 cells/microl, we speculate that there was a critical threshold of immunosupression for constraining AE. Initial treatment with albendazole for AE added to the current highly active antiretroviral treatment (HAART), and suppressive toxoplasmosis therapy became complicated by pancytopenia. After full recovery of the bone marrow, mebendazole was introduced with a new HAART and the previously prescribed toxoplasmosis maintenance therapy. Surprisingly, efficient mebendazole levels were achieved with an uncommonly low dose. These observations suggest that the benzimidazoles, albendazole and mebendazole, may interact with protease inhibitors, which are known for their strong inhibition of the CYP3A4.
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PMID:Alveolar echinococcosis of the liver in an adult with human immunodeficiency virus type-1 infection. 1562 96

Mycobacterium kansasii infection has been reported to be about 20 percent of non-tuberculous mycobacteriosis, and its disseminated type is uncommon and the prognosis is reported to be generally poor. We experienced one case of disseminated Mycobacterium kansasii infection. A 81 year-old man who had been short-bowel syndrome due to the operation for superior mesenteric artery occlusion since 1998 was admitted on April 24th, 2001 to our hospital because of slowly progressive consciousness disturbance and anorexia. He had shown progressive productive cough and respiratory failure and laboratory findings were C-reactive protein elevation and pancytopenia. Human immunodeficiency virus (HIV) antibody was negative. Chest X-ray and computed tomography showed diffuse miliary nodules and infiltrative shadow. Sputum examination was positive for mycobacteria. The cultured isolate was identified as Mycobacterium kansasii. Bone marrow aspirations revealed inflammatory granuloma with necrosis. He was diagnosed as disseminated Mycobacterium kansasii infection and heart failure, and was treated by anti-tuberculosis drugs and diuretics. Treatment was very effective and Chest X-ray findings and respiratory failure had been completely improved. In this case we speculated that the malnutrition due to short-bowel syndrome could be one of the most suspected reasons of Mycobacterium kansasii dissemination. Disseminated Mycobacterium kansasii infection has been rarely reported comparing with the other mycobacterial infections in Japan. However, due to the increasing numbers of immunocompromised hosts with aging, HIV infection, cancer, and steroid therapy, this type of infection will become more common and its earlier diagnosis and adequate treatment will be important to improve the prognosis.
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PMID:[A rare case of disseminated Mycobacterium kansasii infection]. 1599 1


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