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)

Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer. A-T is ethnically widespread and genetically heterogeneous, as indicated by the existence of four complementation groups in this disease. Several "A-T-like" genetic diseases share various clinical and cellular characteristics with A-T. By using linkage analysis to study North American and Turkish A-T families, the ATA (A-T, complementation group A) gene has been mapped to chromosome 11q23. A number of Israeli Arab A-T patients coming from large, highly inbred families were assigned to group A. In one of these families, an additional autosomal recessive disease was identified, characterized by ataxia, hypotonia, microcephaly and bilateral congenital cataracts. In two patients with this syndrome, normal levels of serum immunoglobulins and alpha-fetoprotein, chromosomal stability in peripheral blood lymphocytes and skin fibroblasts, and normal cellular response to treatments with X-rays and the radiomimetic drug neocarzinostatin indicated that this disease does not share, with A-T, any additional features other than ataxia. These tests also showed that another patient in this family, who is also mentally retarded, is affected with both disorders. This conclusion was further supported by linkage analysis with 11q23 markers. Lod scores between A-T and these markers, cumulated over three large Arab families, were significant and confirmed the localization of the ATA gene to 11q23. However, another Druze family unassigned to a specific complementation group, showed several recombinants between A-T and the same markers, leaving the localization of the A-T gene in this family open.
 ...
PMID:Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. 155 65

Ataxia telangiectasia (AT) is a primary immunodeficiency syndrome characterized by cerebellar ataxia, extrapyramidal signs, oculocutaneous telangiectasia, recurrent respiratory infections and development of malignancies. AT is a complex autosomal recessive disorder involving several systems other than lymphoid cells or the central nervous system. Such a diversity of abnormalities includes hypersensitivity of fibroblasts and lymphocytes to ionizing radiation (anomaly of DNA repair), non-random chromosomal rearrangements in lymphocytes, elevated serum level of alpha-fetoprotein, premature aging and endocrine disorders. A DNA processing or repair protein is the suspected common denominator in this pathology. Whatever the putative common underlying mechanism, AT patients have profound alterations of the humoral and cellular immune system whose mechanisms should be discussed in terms similar to those for other immunodeficiency diseases. The usual immunological abnormalities in this disease include decreased levels of CD 3 and CD 4 positive T lymphocytes, impaired delayed hypersensitivity, hypoplasia of thymus, decreased blast transformation in vitro in response to mitogen or antigenic stimulation, and decreased levels of serum IgA, IgE, and IgG 2 subclass. In this paper, the results of our recent studies on the defects of B cells in patients with AT were presented. (1) We found that the geometric means of IgA production in the supernatants of the lymphoblastoid cell lines established by EB virus, from all patients with AT, were significantly lower than those from healthy controls (P less than 0.01). (2) IgG subclasses of the patients' sera were also measured by ELISA, and IgG 4 was defective in four cases among six patients with AT.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Ataxia telangiectasia and characterization of its immunological disorders]. 215 3

Ataxia-telangiectasia (AT) is a complex multiparametric disease associating oculocutaneous telangiectasias, cerebellar ataxia, elevated chromosomal aberration frequency and varied degrees of immunodeficiency. Recently a wasted mutant mouse (wst) has been described as an animal model of AT. We have looked in the wasted mutants for the presence of immune and endocrine abnormalities characteristic of AT. In contrast to the T cell immunodeficiency in AT, wasted mutants had a marked hypoplasia of all lymphoid organs, which affected both T and B lymphocyte subsets. The marked thymic atrophy appearing at the final stage of their disease did not modify the endocrine function of the thymic epithelium which produced normal levels of the thymic hormone thymulin. Although in vitro interleukin 2 (IL-2) production by splenic T cells in response to Con A was markedly diminished, these mice presented normal T and B cell proliferative responses to mitogens. Finally, no significant increase in serum alpha-fetoprotein level (a typical marker of AT) was found throughout the course of the disease. Although by many aspects, i.e. neurological disorder, chromosomal aberrations and early death, wasted mice presented similarities with human AT, major discrepancies in the typical features of immune abnormalities were found between the mouse model and the human disease.
 ...
PMID:The wasted mutant mouse. II. Immunological abnormalities in a mouse described as a model of ataxia-telangiectasia. 242 78

Ataxia-telangiectasia, an inherited disorder characterized by progressive cerebellar ataxia and telangiectasias, is often associated with primary immunodeficiency and high incidence of malignancies, mostly of the lymphoreticular type. Endodermal sinus tumor is a rare germ cell tumor of the ovary characterized by an extremely rapid growth and poor prognosis. Both these diseases are associated with an abnormal production of alpha-fetoprotein. Primary tumors of the ovary in patients with ataxia-telangiectasia are extremely rare and the association of an endodermal sinus tumor and ataxia-telangiectasia has never been reported in the literature. This case report serves to focus on the particular problems encountered in the diagnosis and management of two diseases both characterized by the same serum marker.
 ...
PMID:Ataxia-telangiectasia and endodermal sinus tumor of the ovary: report of a case. 244 92

Antibody profiles for hepatitis B virus (HBV), hepatitis A virus (HAV), cytomegalovirus (CMV), Epstein-Barr virus (EBV) and human immunodeficiency virus (HIV) were determined on 55 serum samples collected from patients with chronic renal failure who were on long-term haemodialysis for periods ranging from 8 months to 5 years and 3 months. The exposure rates for HBV, HAV, CMV, EBV and HIV were 94.5%, 100%, 94.5%, 94.5% and 0% respectively. Among the 7 HBsAg carriers, 1 and 3 were positive for e antigen (HBeAg) and antibody to HBeAg (anti-HBe), respectively and three negative for both. These 7 carriers were also negative for anti-delta antibody. A comparison of the above antiviral profiles to those of voluntary blood donors and general population in this district revealed tht there is no difference for HBV, HAV, CMV and EBV exposure rates, VDRL, alpha-fetoprotein and CEA were also tested and the results showed no abnormalities. Only 3 patients had abnormally elevated SGOT and SGPT levels; the causes were undetermined because all of them gave positive HBV, HAV, CMV and EBV antibody profiles. In conclusion the screening of HBsAg and VDRL in the blood banks virtually eliminated possible infections of HBV and spirochate by blood transfusion and the patients with chronic renal failure who are maintained on long-term haemodialysis are generally not at higher risks of hepatitis-related viral infections.
 ...
PMID:[Hepatitis-related viral markers in patients under long-term hemodialysis]. 245 21

Although hepatitis B infection is endemic in southern Africa, a changing epidemiology of the disease has recently been documented in the region. The authors surveyed migrant southern African male mineworkers during 1986 to establish the prevalence of chronic hepatitis B and D (delta) infection in their areas of origin. Hepatitis B surface antigen (HBsAg) was tested in 29,312 adult male mineworkers from 18 geographic regions, encompassing the diverse tribal and linguistic groups in the region, as well as in expatriate mineworkers from neighboring southern African countries. The same cohort was also tested for antibody to human immunodeficiency virus (HIV). Selected hepatitis B carriers were also tested for hepatitis B virus deoxyribonucleic acid (DNA), antibody to hepatitis D (anti-HD), and alpha-fetoprotein. The overall prevalence of HBsAg in this survey was 9.9%. However, the prevalence varied from 5.5% to 14% in different ethnic groups. A minority of carriers (4.9%) had replicative hepatitis B infection and were hepatitis B virus DNA-positive. Only 0.6% of tested carriers were anti-HD-positive. Alpha-fetoprotein determinations were abnormal in 1.2% of hepatitis B-positive men. These data show that although chronic hepatitis B infection remains widespread in southern Africa, carrier rates vary significantly from region to region. In contrast, hepatitis D co-infection remains extremely uncommon. These baseline seroprevalence data also establish that HIV infection was, in 1986, a rare infection in the indigenous population of South Africa.
 ...
PMID:Regional prevalence of hepatitis B, delta, and human immunodeficiency virus infection in southern Africa: a large population survey. 246 88

This report describes twin girls with typical features of ataxia-telangiectasia, including increased alpha-fetoprotein, radio-resistant DNA synthesis, characteristic chromosome abnormality, and immunodeficiency. They have, in addition, microcephaly and mental retardation. Complementation studies were performed utilizing Sendai virus--mediated fusion of fibroblast cell lines. Complementation was observed with patients in ataxia-telangiectasia complementation groups A, C, and E but not with the cell line from a patient with the Nijmegen breakage syndrome, in which patients have microcephaly, radio-resistant DNA synthesis, chromosome aberrations, and immunodeficiency but lack ataxia and telangiectasia. These data suggest that the Nijmegen breakage syndrome and the patients described here are not genetically distinct entities but form a spectrum of one disorder.
 ...
PMID:ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 249 Nov 81

Sixty-eight human fibroblast cell strains were assayed for radioresistant DNA synthesis (RDS), which is defined here as the absence of a steep component of inhibition of DNA synthesis in a dose-response curve when rate of DNA synthesis is plotted against radiation doses from 0 to 20 Gy or more. Twenty-seven strains from patients who were previously diagnosed to have ataxia-telangiectasia (AT) were positive for this feature. Among the cell strains that did not show RDS were two from AT obligate heterozygotes (i.e., the parents of AT patients), two from patients with Alzheimer disease, two from patients with Friedreich ataxia, one from a patient with Bloom syndrome, one from a patient with Down syndrome, and six from patients with various immunodeficiencies. Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with Nijmegen breakage syndrome, one was from a patient without ataxia but with choreiform movement disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients. RDS therefore is not a necessary trait of human genetic diseases that involve radiosensitivity or immunodeficiency. Although recent reports suggest that some AT patients do not exhibit RDS, we found RDS in all the AT cells we tested.
 ...
PMID:Radioresistant DNA synthesis and human genetic diseases. 272 85

We report on five independent families with a chromosome instability disorder that earlier had been called the Nijmegen breakage syndrome (NBS). These families, two from the Netherlands and three from Czechoslovakia, had a total of eight patients, five of whom are still alive. The main clinical manifestations were microcephaly, short stature, a "bird-like" face, immunological defects involving both the humoral and cellular system. In four of the five living patients it has been possible to study the chromosomes of cultured lymphocytes. The basic karyotype in these patients were normal, but in 17% to 35% of the metaphases rearrangements were found, preferentially involving chromosomes 7 and/or 14 at the sites 7p13, 7q34, and 14q11. The chromosomes of all five living patients were very sensitive to ionizing radiation. In addition, the DNA synthesis in their cultured lymphocytes and fibroblasts was more resistant to X-rays than in cells from controls. The NBS shares a number of important features with ataxia telangiectasia (AT). Both syndromes are characterized by the occurrence of typical rearrangements of chromosomes 7 and/or 14, cellular and chromosomal hypersensitivity to X-irradiation, radioresistance of DNA replication and immunodeficiency. However, there are also obvious differences: NBS patients have microcephaly but neither ataxia nor telangiectasia, and in contrast to the situation in AT the alpha-fetoprotein level in their serum is normal.
 ...
PMID:Further delineation of the Nijmegen breakage syndrome. 278 40

Routine obstetric screening for all patients should include a Pap smear, urinalysis and urine culture, complete blood count, blood type, Rh factor and direct Coombs' test. Patients should also be screened for syphilis, rubella, gonorrhea and diabetes. For patients at high risk for certain conditions, additional studies of value include obstetric ultrasound, amniocentesis, serum alpha-fetoprotein level and screening for sickle cell anemia, herpes, hepatitis B, Chlamydia and human immunodeficiency virus.
 ...
PMID:Prenatal screening. 328 2


1 2 3 4 Next >>