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)

Before the mid-1980s, haemophilia often was unknowingly treated with contaminated plasma products, resulting in high rates of human immunodeficiency virus (HIV-1), hepatitis C virus (HCV) and hepatitis B virus (HBV) infections. To estimate the impact of these infections, a new cohort was established. All HCV-seropositive patients, age 13-88 years, at 52 comprehensive haemophilia treatment centres were eligible. Cross-sectional data collected during April 2001 to January 2004 (median June 2002) were analysed. Plasma HIV-1 and HCV RNA were quantified by polymerase chain reaction. Highly active antiretroviral therapy (HAART) was defined as use of at least three recommended medications. Among 2069 participants, 620 (30%) had HIV-1. Of 1955 with known HBV status, 814 (42%) had resolved HBV and 90 (4.6%) were HBV carriers. Although 80% of the HIV-1-positive participants had > or = 200 CD4+ cells microL(-1), only 59% were on HAART. HIV-1 RNA was undetectable in 23% of those not taking antiretroviral medications. Most (72%) participants had received no anti-HCV therapy. HCV RNA was detected less frequently (59%) among participants treated with standard interferon plus ribavirin (P = 0.0001) and more frequently among HIV-1-positive than HIV-1-negative participants (85% vs. 70%, P < 0.0001). HIV-1-positive participants were more likely to have pancytopenia and subclinical hepatic abnormalities, as well as persistent jaundice, hepatomegaly, splenomegaly and ascites. HAART recipients did not differ from HIV-negative participants in the prevalence of ascites. The clinical abnormalities were more prevalent with older age but were not confounded by HBV status or self-reported alcohol consumption. Eleven participants presented with or previously had hepatocellular carcinoma or non-Hodgkin lymphoma. Although prospective analysis is needed, our data reveal the scale of hepatic and haematological disease that is likely to manifest in the adult haemophilic population during the coming years unless most of them are successfully treated for HIV-1, HCV or both.
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PMID:Prevalence of conditions associated with human immunodeficiency and hepatitis virus infections among persons with haemophilia, 2001-2003. 1612 97

Histoplasmosis has rarely been reported in Taiwan, and its clinical manifestations may be similar to those of tuberculosis. With increasing international travel, physicians need to be aware of the possibility of this disease when caring for patients with advanced human immunodeficiency virus (HIV) infection who have traveled to endemic areas. A 55-year-old Chinese male from Burma presented with concurrent histoplasmosis and tuberculous meningitis as the initial opportunistic infection of acquired immunodeficiency syndrome. Fever, altered mentation, pancytopenia, splenomegaly and marked elevations of serum lactate dehydrogenase (3601 U/L) and ferritin (>10(6) ng/mL) were noted. Despite treatment with amphotericin B and antituberculous therapy, the patient died on the 25th day of hospitalization. This case illustrates the complexity and challenges of management of opportunistic infections in travelers returning from Southeast Asia who are in the advanced stage of HIV infection.
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PMID:Meningitis due to Histoplasma capsulatum and Mycobacterium tuberculosis in a returned traveler with acquired immunodeficiency syndrome. 1687 29

Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive immunodeficiency disorder characterized by partial albinism, recurrent pyogenic infections, and large granules in all granule-containing cells. The author describes a Thai girl who was the first case of CHS in Thailand. She presented in the accelerated phase of CHS, which leads to repeated infections and bleeding, often resulting in fatal outcome. Pancytopenias, hepatosplenomegaly, lymphohistiocytic infiltration in bone marrow and the abnormal characteristic granules in leukocyte clinched the diagnosis.
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PMID:Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature. 1669 3

Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentation is rare and we report a case that presented with obstructive hydrocephalus and infiltrative lesions in the brain unaccompanied by other features of accelerated phase. Biopsy of these lesions demonstrated sinus histiocytosis. Electron microscopy of hair shaft and genetic studies established the diagnosis of Griscelli disease with RAB 27A mutation.
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PMID:Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. 1708

Plasmablastic lymphoma is an aggressive subtype of diffuse large B-cell lymphoma that is mainly observed in patients with the human immunodeficiency virus (HIV) infection, and it tends to arise in the oral cavity. We present a case of an HIV-infected patient with plasmablastic lymphoma with prolonged survival. The 30-yr-old woman was found to have an oral lesion at the time of the diagnosis of HIV infection. Histological and immunochemical examination of biopsy of the oral lesion showed plasmablastic lymphoma (CD138+). She received two cycles of cyclophosphamide, vincristine, doxorubicin, and prednisolone (CHOP) that started 10 weeks after the initiation of antiretroviral therapy. The continuing pancytopenia and an adenoviral febrile infection did not permit further antineoplastic treatment. A gradual decrease of the oral lesion was noted after the second cycle of chemotherapy that led to the disappearance of the lesion 7 months later. The patient remains in complete remission 61 months after the diagnosis of plasmablastic lymphoma.
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PMID:Prolonged survival of an HIV-infected patient with plasmablastic lymphoma of the oral cavity. 1709 93

We report a case of visceral leishmaniasis and acute renal failure in a white male patient, 28 years of age, infected with the human immunodeficiency virus (HIV). The clinical presentation of the patient was diarrheic syndrome of long evolution, fever, hepatosplenomegaly and pancytopenia, accompanied by nephrotic syndrome and irreversible acute renal failure. Renal biopsy showed glomerular AA amyloid deposits. This is the first case described in humans of secondary amyloidosis caused by visceral leishmaniasis.
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PMID:[Secondary amyloidosis with irreversible acute renal failure caused by visceral leishmaniasis in a patient with AIDS]. 1722 55

We report a Japanese case of human herpes virus-8 (HHV-8)-associated multicentric Castleman disease(MCD) complicated by hemophagocytic syndrome(HPS). A 60-year-old man presented with persistent fever and progressive pancytopenia in June 2004. On physical examination, anemia, icterus, hepatosplenomegaly, and generalized lymphadenopathy were detected. Laboratory findings showed elevated levels of serum ferritin and soluble interleukin-2 receptor. Anti-human immunodeficiency virus (HIV) antibody was negative. Bone marrow aspiration revealed a normocellular marrow with an increased number of hemophagocytic histiocytes. Biopsy of cervical lymph node disclosed pathological features compatible with the plasmablastic variant of Castleman disease. HHV-8 DNA was detected in the specimen from lymph node by polymerase chain reaction. Thus, the diagnosis of HHV-8-associated MCD complicated by HPS was made. The patient was treated with immunotherapy and subsequent chemotherapy. However, he died of bacterial sepsis after one-month therapy. This case report provides some evidence that HHV-8 may be a causative agent of MCD even in HIV-seronegative Japanese patients.
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PMID:[A Japanese case of human herpes virus-8-associated multicentric castleman disease complicated by hemophagocytic syndrome]. 1870 66

Platinum is the key drug in current treatment of ovarian cancer. The overall survival rate of patients with advanced ovarian cancer has improved. Recently, therapy-related myelodysplastic syndrome(T-MDS)and therapy-related leukemia( TRL)have been reported with increasing frequency in the literature. In this paper, we report two cases of TMDS followed by TRL after chemotherapy(TC therapy consisting of carboplatin and paclitaxel)with ovarian cancer stageIIIc. The interval from the primary chemotherapy to TMDS was 23 months or 90 months. The abnormal karyotype was observed in chromosomal analysis. Neither cases were given chemotherapy for TMDS, and died of the immunodeficiency. TRL and T-MDS are the most serious complications of chemotherapy. If pancytopenia is detected, bone marrow and cytogenetic examinations should be performed to rule out TMDS.
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PMID:[Secondary myelodysplasia and leukemia following carboplatin and paclitaxel-containing chemotherapy for ovarian cancer]. 1893 92

Peripheral blood cytopenia such as anemia, leukopenia with neutropenia and thrombocytopenia is frequently observed in cats infected with feline immunodeficiency virus (FIV). Although previous studies report that cytopenia has been observed in FIV-infected symptomatic cats, yet the asymptomatic cats also present cytopenia occasionally. In the present study, hematological and virological analyses in FIV-infected asymptomatic cats were carried out to understand the prevalence and pathogenesis of peripheral blood cytopenia in FIV infection. Hematological abnormalities were detected in 24 of 50 FIV-infected asymptomatic cats (48%) in which no other cause of cytopenia than FIV infection was observed. Anemia only, neutropenia only, thrombocytopenia only, bicytopenia and pancytopenia were observed in 10%, 10%, 6%, 14% and 8%, respectively. Bone marrow (BM) examination was performed in 8 FIV-infected asymptomatic cats with peripheral blood cytopenia. Myeloid dysplasia was observed in 4 cats with neutropenia of which 2 cats with concurrent thrombocytopenia presented morphological abnormalities of megakaryocytes. FIV-infected BM cells in the 8 cats were analyzed by PCR and immunocytochemistry. Lobulated mononuclear cells in BM were infected with FIV in 5 cats with neutropenia of which 2 cats with concurrent thrombocytopenia showed FIV-infected megakaryocytes. Parts of isolated stromal cells from BM were infected with FIV in all the 8 cats. Present results suggest that FIV infection of BM cells can cause peripheral blood cytopenia and myelodysplasia even if the cat is asymptomatic. Such FIV-related hematological abnormalities are supposed to be diagnosed as FIV-myelopathy.
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PMID:Prevalence of hematological abnormalities and detection of infected bone marrow cells in asymptomatic cats with feline immunodeficiency virus infection. 1911 Mar 84

DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining. Herein, we report two siblings with LIG4 syndrome with a novel mutation. One of the siblings, who had normocellular marrow, had autologous reconstitution after initial non-myeloablative conditioning and underwent successful second hematopoietic stem cell transplantation after conditioning with busulfan, cyclophosphamide, and anti-thymocyte globulin. Our findings indicate that transplantation with myeloablative conditioning can be used successfully in LIG4 syndrome patients.
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PMID:A novel mutation in a family with DNA ligase IV deficiency syndrome. 1941 49


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