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)

The converging epidemics of tuberculosis and acquired immunodeficiency syndrome (AIDS) in the RSA and their expected catastrophic interaction afford an ideal opportunity for well-planned and essential research by clinicians, molecular biologists, epidemiologists and other health workers. The enigmatic relationship between tuberculosis, vitamin D and calcium is a field of study which should be considered urgently. An optimal vitamin D status not only assures sound calcium-phosphorus homeostasis, but is also essential for maximal immune competency. Hypovitaminosis D probably predisposes towards vulnerability to tuberculosis due to deficient monocyte-macrophage function. In contrast, hypervitaminosis D can correct this deficiency, but would do so at the cost of both B- and T-lymphocyte efficiency. One example of such a state is the endogenous over-production of activated vitamin D by gamma-interferon-activated monocytes, tissue macrophages and granulomatous tissue in tuberculosis. This would not only cause the coincidental hypercalcaemia, but may also complicate the effective co-ordination of monocyte-lymphocyte interaction and consequently compromise an appropriate immune response. It can reasonably be expected that the raised plasma interferon levels in the AIDS patient may trigger similar vitamin D-related pathophysiological processes. It is proposed that the ideal situation for enhanced vulnerability to tuberculosis in the AIDS patient will have been created if the known destructive effects of the human immunodeficiency virus on CD4-positive lymphocytes act synergistically with the vitamin D-mediated complications listed above.
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PMID:[The relationship between tuberculosis, vitamin D, potassium and AIDS. A message for South Africa?]. 804 2

It is well known that cases with multiple myeloma reveal various clinical manifestations such as pancytopenia, hyperproteinemia, renal dysfunction, bone lesions, hypercalcemia and immunodeficiency. Recently, a few more clinical features associated with myeloma, such as salivary type hyperamylasemia and elevated serum C-reactive protein (CRP) concentration, have been reported. The elevation of CRP is thought to be related to interleukin-6 (IL-6) production by myeloma cells, because of identification of IL-6 as an autocrine and/or paracrine growth factor for myeloma cells. More recently, there have been several reports of cases with myeloma associated with hyperammonemia. This hyperammonemia is not considered to be due to liver dysfunction, because in most of these cases tests revealed normal hepatic function, and some cases showed different patterns of serum amino acid distribution than that associated with hepatic failure. However, there have been no apparent observations of ammonia production by myeloma cells. In this study, we used six human myeloma cell lines including KMS-18, which was recently established from a myeloma case associated with hyperammonemia. These lines were treated with MRA (mycoplasma removal agent) to observe ammonia production in vitro. They produced and released significantly higher levels of ammonia into culture medium than non-myeloma hematological cell lines or the HepG2 human hepatic carcinoma cell line. Although attempts to analyze the relative expression levels of the enzymes related to ammonia biosynthesis using the reverse transcriptase-polymerase chain reaction assay failed to detect any differences between these myeloma lines and other cell lines, in vitro excess ammonia production by the myeloma cells was confirmed and the relevance to clinical manifestations is discussed.
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PMID:In vitro excess ammonia production in human myeloma cell lines. 966 3

Hypercalcemia is uncommon in patients infected with the human immunodeficiency virus (HIV). It has been described in association with cytomegalovirus infection, Pneumocystis carinii pneumonia, granulomatous diseases, and lymphoma. However, symptomatic hypercalcemia as an early sign of an underlying AIDS-related lymphoma is not well documented. We discuss the case of a patient with HIV and hypercalcemia, leading to the diagnosis of an underlying lymphoma. The hypercalcemia was associated with a suppressed serum level of intact parathyroid hormone and a normal serum phosphorus level. The possibility of a lymphoproliferative disorder should be considered in the differential diagnosis of HIV-associated hypercalcemia.
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PMID:Hypercalcemia as an early sign of lymphoma in a patient with acquired immunodeficiency syndrome (AIDS). 1049 74

Adult T-cell leukemia/lymphoma(ATL) was first discovered and reported in Japan, where it has a high incidence in the southwestern region of the country. The retrovirus human T-cell leukemia virus type I(HTLV-I) is considered to be related to its etiology. ATL shows divers clinical features. It can be divided into four types of smoldering, chronic, acute, and lymphoma. ATL cells originate from the CD4-positive subset of peripheral T cells showing a characteristic notch in the nucleus and a tendency for lobulation. A definit diagnosis of ATL is made by documenting the presence of HTLV-I proviral DNA in the DNA of leukemic or lymphoma cells. Crinico-Pathological aspects of ATL are more complexed than other types of lymphoma because of the verity of the disease type, state of immunodeficiency, hypercalcemia, cytokine activation, and so on.
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PMID:[Clinico-pathological aspects of adult T-cell leukemia/lymphoma(ATL)]. 1074 Nov 41

Five of 10 patients who commenced successful highly active antiretroviral therapy (HAART) for infection with human immunodeficiency virus type 1 (HIV-1) concurrent with or soon after a diagnosis of cryptococcal infection experienced clinical events characterized by sterile inflammation. Two patients developed aseptic meningitis with elevated intracranial pressure, 1 developed intrathoracic lyphadenopathy with hypercalcemia, 1 developed cavitary pneumonia at the site of a cryptococcal nodule, and 1 developed a supraclavicular abscess. These events occurred 2-11 months after initiation of HAART. For 3 patients, biopsy demonstrated findings atypical for acquired immunodeficiency syndrome-associated cryptococcosis. Results of fungal cultures were negative for all 5 patients, and cryptococcal antigen levels had declined markedly in 4 patients. The timing and clinical features of and biopsy findings for these cases of cryptococcosis suggest the existence of a paradoxical reaction to Cryptococcus infection that occurs in the context of HIV immune restoration.
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PMID:Immune reconstitution cryptococcosis after initiation of successful highly active antiretroviral therapy. 1467 64

Adult T-cell leukemia (ATL) was first reported as a distinct clinical entity in 1977 in Japan. The predominant physical findings are skin lesions, lymphadenopathy and hepatosplenomegaly. The ATL cells are of mature T-helper phenotype and have a characteristic appearance with indented nuclei. There is striking frequent hypercalcemia with increased numbers of osteoclasts. Central to the identification of the disease is a striking geographic clustering in southwestern Japan and the isolation of human T-cell lymphotropic virus type-1 (HTLV-1) from the cell lines of patients. Worldwide epidemiological studies have been made through international collaborations. Several diseases were found to be related to HTLV-1 infection. Moreover, it was noted that an immunodeficiency state may be induced by HTLV-1 infection. In Japan, HTLV-1 carriers have been estimated to be 1.2 million, and more than 700 cases of ATL have been diagnosed each year.
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PMID:Discovery of adult T-cell leukemia. 1574 25

Common variable immunodeficiency (CVID) is the most common primary immunodeficiency. A granulomatous form of the condition is recognized. Renal involvement is rare. The authors present the first case of CVID with biopsy-proven noncaseating renal granulomas, in association with hypercalcemia. The mechanism of hypercalcemia in granulomatous disorders, and the difficulty of differentiating granulomatous CVID from sarcoidosis, are discussed.
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PMID:Hypercalcemia in a patient with common variable immunodeficiency and renal granulomas. 1586 42

Adult T-cell leukemia-lymphoma (ATL) is a distinct peripheral T-lymphocytic malignancy associated with a retrovirus designated human T-cell lymphotropic virus type I (HTLV-1). The diversity in clinical features and prognosis of patients with this disease has led to its subclassification into the following four categories: acute, lymphoma, chronic, and smoldering types. The chronic and smoldering subtypes are considered indolent and are usually managed with watchful waiting until disease progression, analogous to the management of some patients with chronic lymphoid leukemia (CLL) or other indolent histology lymphomas. Patients with aggressive ATL generally have a poor prognosis because of multidrug resistance of malignant cells, a large tumor burden with multiorgan failure, hypercalcemia, and/or frequent infectious complications as a result of a profound T-cell immunodeficiency. Under the sponsorship of the 13th International Conference on Human Retrovirology: HTLV, a group of ATL researchers joined to form a consensus statement based on established data to define prognostic factors, clinical subclassifications, and treatment strategies. A set of response criteria specific for ATL reflecting a combination of those for lymphoma and CLL was proposed. Clinical subclassification is useful but is limited because of the diverse prognosis among each subtype. Molecular abnormalities within the host genome, such as tumor suppressor genes, may account for these diversities. A treatment strategy based on the clinical subclassification and prognostic factors is suggested, including watchful waiting approach, chemotherapy, antiviral therapy, allogeneic hematopoietic stem-cell transplantation (alloHSCT), and targeted therapies.
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PMID:Definition, prognostic factors, treatment, and response criteria of adult T-cell leukemia-lymphoma: a proposal from an international consensus meeting. 1906 71

A 68-year-old man was admitted to our hospital because of left back pain and systemic lymphadenopathy with hypercalcemia. Serum anti-HTLV-1 antibody was positive. Left cervical lymph node (LN) biopsy revealed proliferation of medium-sized to large CD4-positive atypical cells with modest infiltration of CD20 and Epstein-Barr virus (EBV)-encoded RNA dual-positive atypical large cells. Monoclonal integration of HTLV-1 proviral DNA, plus clonal rearrangement of the T-cell receptor chain gene and the immunoglobulin heavy chain gene, were detected in the same LN specimen. Composite lymphoma consisting of adult T-cell leukemia/lymphoma (ATL) and EBV positive diffuse large B-cell lymphoma (DLBCL) was diagnosed. He was successfully treated with aggressive chemotherapy including rituximab and attained remission. However, eight months later, he developed right shoulder pain due to multiple bone invasions with bilateral cervical lymphadenopathy. Biopsies of a bone lesion and cervical LN revealed recurrence of ATL alone. The patient died despite salvage chemoradiotherapy. These findings suggest that ATL-related immunodeficiency might induce EBV-associated DLBCL.
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PMID:[Composite lymphoma consisting of adult T-cell leukemia-lymphoma and diffuse large B-cell lymphoma]. 2430 40

Multiple myeloma is a neoplastic plasma cell disorder. It is characterized by collections of abnormal plasma cells accumulating in the bone marrow, where they interfere with the production of normal blood cells. It usually presents as a multisystemic involvement, whose symptoms and signs vary greatly. Some patients have slowly progressive disease while others have aggressive clinical behavior by extramedullary involvement. In addition to renal failure, anemia, hypercalcemia, lytic bone lesions, and immunodeficiency, it also affects multiple organ system, such as pancreas, adrenal glands, kidney, skin, lung, liver, spleen, lymph nodes, and bone. To raise awareness of the variable presentations of this disease, we report a 53-year-old male patient, with multiple myeloma in his first remission who relapsed with extramedullary plasmacytomas (EMPs) involving multiple organs, such as pancreas, adrenal glands, kidney, skin, lung, liver, spleen, and lymph nodes.
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PMID:Relapse of multiple myeloma presenting as extramedullary plasmacytomas in multiple organs. 2569 34


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