Abstract:
:The primary antibody deficiency syndromes are a group of rare disorders characterized by an inability to produce clinically effective immunoglobulin responses. Some of these disorders result from genetic mutations in genes involved in B cell development, whereas others appear to be complex polygenic disorders. They most commonly present with recurrent infections due to encapsulated bacteria, although in the most common antibody deficiency, Common Variable Immunodeficiency, systemic and organ-specific autoimmunity can be a presenting feature. Diagnostic delay in this group of disorders remains a problem, and the laboratory has a vital role in the detection of abnormalities in immunoglobulin concentration and function. It is critical to distinguish this group of disorders from secondary causes of hypogammaglobulinaemia, in particular lymphoid malignancy, and appropriate laboratory investigations are of critical importance. Treatment of primary antibody deficiencies involves immunoglobulin replacement therapy, either via the intravenous or subcutaneous route. Patients remain at risk of a wide variety of complications, not all linked to diagnostic delay and inadequate therapy. In common variable immunodeficiency (CVID) in particular, patients remain at significantly increased risk of lymphoid malignancy, and regular clinical and laboratory monitoring is required. This review aims to give an overview of these conditions for the general reader, covering pathogenesis, clinical presentation, laboratory investigation, therapy and clinical management.
journal_name
Ann Clin Biochemjournal_title
Annals of clinical biochemistryauthors
Wood Pdoi
10.1258/acb.2008.008175subject
Has Abstractpub_date
2009-03-01 00:00:00pages
99-108issue
Pt 2eissn
0004-5632issn
1758-1001pii
acb.2008.008175journal_volume
46pub_type
杂志文章,评审abstract::The number of known inherited metabolic disorders resulting in an organic aciduria has increased steadily over the past two decades. Prompt and reliable detection is both clinically and technically demanding but is essential if appropriate treatment is to be undertaken. This is the first study of laboratory performanc...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329403100203
更新日期:1994-03-01 00:00:00
abstract::The effects of inhibition of inosine monophosphate dehydrogenase (IMPDH), the rate-limiting enzyme in guanine nucleotide de novo synthesis, on cell growth, cell viability, endogenous nucleotide concentrations and concentrations of extracellular nucleosides and bases were studied in Molt F4 human malignant lymphoblasts...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329403100211
更新日期:1994-03-01 00:00:00
abstract::Quadriceps muscle specimens from autopsy of 28 neonates (gestational age 25-42 weeks) were investigated to determine pyruvate and malate oxidation rates and several enzymes of the mitochondrial oxidative process. In general, the levels of all mitochondrial parameters measured, including carnitine levels, were lower in...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329202900604
更新日期:1992-11-01 00:00:00
abstract:PURPOSE:We assessed erythrocyte sedimentation rate and high-sensitivity C-reactive protein concentration in knee osteoarthritis and non-knee osteoarthritis. In addition, we investigated potential relationship between the levels of erythrocyte sedimentation rate and high-sensitivity C-reactive protein with clinical find...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563215610142
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Various conjugated cholesterol metabolites are excreted in urine of the patients with metabolic abnormalities and hepatobiliary diseases. We aimed to examine the usefulness of precursor ion scan and neutral loss scan for the characterization of conjugated cholesterol metabolites in urine. METHODS:A mixture ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563214568871
更新日期:2015-09-01 00:00:00
abstract::The estimation of oestrogen in aqueous solutions and pregnancy urines using an automated procedure is affected by the presence of certain ions, and by dilution. These effects have been studied by calculating regression equations from the values obtained with urines to which ions have been added with and without urine ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456327601300105
更新日期:1976-01-01 00:00:00
abstract::Measurement of genetically altered DNA shed from tumours into the circulation can potentially provide a new generation of blood-based cancer biomarkers. Compared with tissue DNA biomarkers which require surgery or biopsy, samples for circulating tumour DNA assays can be obtained with minimal inconvenience and at lower...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/0004563218798401
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:We found a unique cholesteryl ester transfer protein (CETP) deficient case with markedly elevated serum triglyceride (TG) as well as high-density lipoprotein cholesterol (HDL-C) levels. Most of the CETP deficiency cases were reported to have normal or reduced serum TG with elevated HDL-C. METHODS:The case s...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2009.008249
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:Pregnancy represents a major risk factor for deep vein thrombosis (DVT). Most coagulation/fibrinolysis markers currently utilized change during pregnancy, and therefore they cannot accurately evaluate thrombotic events in pregnancy because the rate of false positive results is high. Fibrin monomer complex (F...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456307781646076
更新日期:2007-09-01 00:00:00
abstract::A real time data processing system for a group of three clinical chemistry laboratories (one base and two satellite) has been developed as a successor to one used previously. This paper describes both the inadequacies of the previous worksheet-based system and the advantages of the new system, including flexibility, f...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456327901600105
更新日期:1979-01-01 00:00:00
abstract:BACKGROUND:Recent NICE Guidelines have emphasized the need to have in place by 2007 the capability of offering screening to all women in the first trimester using a combination of maternal age with the ultrasound marker nuchal translucency thickness (NT) and the maternal serum biochemical markers free beta-hCG and preg...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/0004563053026880
更新日期:2005-01-01 00:00:00
abstract::An investigation into the use of bilirubin oxidase to measure the apparent concentration of unbound bilirubin in solutions of bilirubin or bilirubin/human serum albumin demonstrated (1) near linearity of oxidation rate with bilirubin concentration up to 16 mumol/L, (2) linearity with respect to enzyme concentration up...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328802500110
更新日期:1988-01-01 00:00:00
abstract:BACKGROUND:To assess the accuracy and precision of the Roche Performa and Medisense Optium Xceed (5 and 10 s reading) blood glucose meters. METHODS:Capillary blood samples were taken from 100 patients attending a diabetes centre and blood glucose measured on Roche Performa (n = 4) and Medisense Optium Xceed 5 s (n = 2...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2009.008193
更新日期:2009-07-01 00:00:00
abstract::In the last few years, the use of enzyme labels in immunoassays has been investigated. The aim of this review is to evaluate critically the role of such labels in clinical biochemistry. Special attention has been given to the problems involved in preparing enzyme labels and the ways in which such labels can be used in...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1177/000456327901600162
更新日期:1979-09-01 00:00:00
abstract::The Poser criteria for diagnosing multiple sclerosis (MS) includes clinical, paraclinical and laboratory information. We studied the influence of cerebrospinal fluid (CSF) biochemistry results on the categorisation of patients with suspected MS. A retrospective study was made of 138 patients who had CSF samples sent o...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329002700303
更新日期:1990-05-01 00:00:00
abstract::Free and total reduced concentrations of D-penicillamine have been measured in the plasma of rheumatoid arthritis patients by HPLC and electro-chemical detection. A reverse-phase ion-pair separation in conjunction with a dual porous graphite electrode satisfied the requirements of robustness, sensitivity, selectivity ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328802500210
更新日期:1988-03-01 00:00:00
abstract::Pancreatic elastase 1 (E1), a digestive protease, is synthesized by the acinar cells of the pancreas. Using an enzyme-linked immunosorbent assay, we evaluated stool E1 levels in the following groups of patients. (a) Specimens submitted for occult blood examination from 20 adults, over 3 consecutive days, to assess the...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329903600606
更新日期:1999-11-01 00:00:00
abstract::The current search for new treatments to combat coronary heart disease (CHD) is centred on increasing HDL-cholesterol. The failure of the CETP inhibitor torcetrapib may force a rethink. This perspective briefly reviews the antiatherosclerotic properties of HDL and ways HDL-cholesterol concentration can be raised, but ...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1258/acb.2008.008133
更新日期:2009-01-01 00:00:00
abstract::The mechanisms of hypercalcaemia were assessed in 20 hypercalcaemic patients with breast cancer. Abnormalities suggestive of a PTH-related peptide (PTHrP) mechanism were observed in up to 60% of cases; urinary cyclic adenosine monophosphate (UcAMP) was elevated in nine patients (45%), renal tubular reabsorption of cal...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329002700605
更新日期:1990-11-01 00:00:00
abstract::A p-iodophenol-enhanced luminescent end-point has been incorporated into a commercially available heterogeneous competitive enzyme immunoassay for digoxin based on a horseradish peroxidase-digoxin conjugate. The luminescent end-point could be completed in less than 1 min and significantly reduced overall assay time. R...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328602300104
更新日期:1986-01-01 00:00:00
abstract:BACKGROUND:Individuals who are unable to metabolize the short-acting muscle relaxant succinylcholine due to abnormal cholinesterase activity are currently investigated via spectrophotometry using artificial substrates and enzyme inhibitors. Methods have been described using succinylcholine as substrate but with measure...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/acb.2010.009169
更新日期:2010-05-01 00:00:00
abstract::We hereby describe the rare case of a 59-year-old patient presenting with marked hyperamylasaemia mimicking acute pancreatitis upon admission. Investigation of co-existent hypokalemia revealed the presence of ectopic adrenocorticotropic hormone secretion, leading to the final diagnosis of small cell lung cancer, exhib...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563213500658
更新日期:2014-01-01 00:00:00
abstract:AIM:The aim of the study was to review the clinical validation process of out of hours critical biochemistry results by a clinical biochemist and its effect on primary care services. METHODS:A prospective study was conducted of all critical results for primary care patients who were analysed out of hours. The nine-mon...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563215595251
更新日期:2016-03-01 00:00:00
abstract::Background Accumulating evidence shows an over-abundance of Fusobacterium nucleatum in colorectal tumour tissues. Although stool DNA testing of Fusobacterium nucleatum might be a potential marker for the detection of colorectal tumours, the difficulty in detecting Fusobacterium nucleatum in stool by conventional metho...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563216643970
更新日期:2017-01-01 00:00:00
abstract::We studied the serum protein binding of 3H-labelled progesterone, oestradiol and testosterone, and five 125I-labelled analogues of these steroids. All tracers investigated appeared to be bound by proteins in every serum sample tested. The addition of blocking agents caused a substantial reduction in serum protein bind...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329503200609
更新日期:1995-11-01 00:00:00
abstract::Three sensitive assays (Behring, Organon and LKB-Pharmacia) for measurement of serum thyrotropin (TSH) were evaluated. All three assays showed good precision, sensitivity, linearity and for practical purposes negligible high dose hook effects. The correlations between the assays were excellent, but due to standardisat...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456328902600609
更新日期:1989-11-01 00:00:00
abstract::Wernicke's encephalopathy is caused by thiamine deficiency and has a range of presenting features, including gait disturbance, altered cognitive state, nystagmus and other eye movement disorders. In the past, Wernicke's encephalopathy was described almost exclusively in the alcohol-dependent population. However, in cu...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/0004563220939604
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:It is now established that the bioactive lipid lysophosphatidic acid (LPA) contributes to cancer initiation, progression and metastasis, including those of prostate cancer. LPA is produced in the serum and plasma mainly by conversion from lysophospholipids through the action of lysophospholipase D (lysoPLD),...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1258/000456307782268147
更新日期:2007-11-01 00:00:00
abstract::A comparison of the Roche Cobas Core and Hybritech TANDEM-E PSA (prostate specific antigen) assays revealed a large difference in the reactivity of each assay to the separated free and complexed forms of serum PSA in patients with prostatic carcinoma. The Roche assay was relatively much more responsive to the free for...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329403100514
更新日期:1994-09-01 00:00:00
abstract::The hypoglycaemia caused by non-islet cell tumours is often associated with an increase in plasma insulin-like activity. In many cases there is a relative if not always absolute increase in plasma insulin-like growth factor II (IGF-II). Growth hormone (GH) secretion is almost invariably depressed as is the plasma insu...
journal_title:Annals of clinical biochemistry
pub_type: 杂志文章
doi:10.1177/000456329202900312
更新日期:1992-05-01 00:00:00