Association between hypoparathyroidism and defective T cell immunity in 22q11.2 deletion syndrome.

Aims: Although poor thymic function leading to viral and fungal infections can be a feature of chromosome 22q11.2 deletion syndrome, most patients have relatively normal immunity. The aim of this study was to investigate which clinical and laboratory parameters best predict the likelihood of serious or recurrent infections in patients with this syndrome.

Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency.

Objectives: C1q deficiency is a rare inherited defect in the early part of the complement cascade. In this report, we describe the varied clinical features of patients with this condition as well as the characteristic autoantibody profile.

Methods: A large Pakistani family with a high degree of consanguinity is described in which the father and five sons have C1q deficiency, all with different clinical manifestations.

Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency.

Although idiopathic humoral immunodeficiencies are arbitrarily classified into specific antibody deficiency (SAD) or common variable immunodeficiency (CVID), this distinction does not accurately predict the risk of the bronchiectasis, one of the major long-term clinical complications in these patients. In this study, clinical complications were compared with laboratory markers of cellular and humoral immunity in fifty-five consecutive patients (27 children and 28 adults) attending regional immunology clinics in Manchester, United Kingdom. Reduced CD19(+)CD27(+)IgD(-) B cell percentage but not serum immunoglobulin levels or classification of patients into SAD and CVID was associated with a significantly higher prevalence of bronchiectasis (OR 0.

Total and serotype-specific pneumococcal antibody titres in children with normal and abnormal humoral immunity.

A heptavalent pneumococcal conjugate vaccine (PCV-7) protects children against invasive pneumococcal disease. The aim of this study was to evaluate immunoglobulin subclass and serotype-specific pneumococcal antibody responses to vaccination in children with a history of recurrent or severe bacterial infections. Pneumococcal IgG, IgG1, IgG2 titres were assayed by ELISA, and nine serotype concentrations measured using a nonaplex bead assay in 145 children investigated for recurrent or severe infections.

Sarcoidosis and HTLV-1 infection.

An asymptomatic, homosexual, white man was found to have an abnormal chest x ray. A presumptive diagnosis of sarcoidosis was made, but pulmonary function tests and a transbronchial biopsy were normal. He then remained asymptomatic for 10 years until he developed a progressive spastic paraparesis.

Primary antibody deficiency and diagnostic delay.

Aims: To assess the occurrence of diagnostic delay in primary antibody deficiency in the period 1989-2002, since a similar study in 1989, and to assess the impact of UK national guidelines communicated in 1995.

Methods: A retrospective case note review was performed of 89 consecutive patients with antibody deficiency referred to a regional referral centre for clinical immunology in north west England and north Wales. The delay in diagnosis and the estimated resulting morbidity in terms of infections were assessed.

Clinical pathology accreditation: standards for the medical laboratory.

This article describes a new set of revised standards for the medical laboratory, which have been produced by Clinical Pathology Accreditation (UK) Ltd (CPA). The original standards have been in use since 1992 and it was recognised that extensive revision was required. A standards revision group was established by CPA and this group used several international standards as source references, so that the resulting new standards are compatible with the most recent international reference sources.

The role of fear of physical movement and activity in chronic fatigue syndrome.

Objective: To examine beliefs in relation to avoidance of activity in chronic fatigue syndrome (CFS) patients.

Methods: The first phase consisted of modifying an existing chronic pain measure of kinesiophobia-fear of physical movement and activity-and validating it on the CFS population [Tampa Scale of Kinesiophobia-Fatigue (TSK-F); n=129; test-retest: r=.89, P<.

Children with atopic dermatitis who carry toxin-positive Staphylococcus aureus strains have an expansion of blood CD5- B lymphocytes without an increase in disease severity.

Toxin-positive strains of Staphylococcus aureus (T + S. aureus) are present on the skin of some but not all patients with atopic dermatitis. Many staphylococcal toxins are superantigens, which can stimulate the immune response and thus may potentially lead to the very high levels of IgE characteristic of this condition, as well as exacerbating the clinical disease.

Setting standards for pathology service support to emergency services.

Quality standards have been established in two key areas of pathology directly relevant to standards for the provision of emergency medical services. First, there is a national scheme for accreditation of laboratory services--Clinical Pathology Accreditation (UK) Ltd (CPA)--which has been in formal operation since 1992 and currently covers about 80% of all UK laboratories. Secondly, guidelines have been issued by the Joint Working Group on Quality Assurance (JWGQA) on the support to any point-of-care (near patient) testing facilities.

Atopic eczema is associated with delayed maturation of the antibody response to pneumococcal vaccine.

The aim of this study was to investigate a previously undocumented observation, that children with atopic eczema under 9 years of age tended to have a poor antibody response to Pneumococcal vaccination. Thirty-five children (mean age 8.8 years, range 3-16 years) with moderate to severe atopic eczema but no history of systemic infection were studied retrospectively.

The application of near patient testing to microbiology.

Near patient testing (NPT) was the norm in days when urine was examined by smell and taste. More recently, general practitioners and physicians in genitourinary medicine began to use light microscopes in their consulting rooms to examine urine for pus cells and urethral and other swabs for pathogens. Increasing knowledge has led to specialisation, however, with clinicians obtaining specimens for examination by others.

Defective antibody production in patients with rheumatoid arthritis and bronchiectasis.

Bronchiectasis (BR) occurs in about 3% of patients with rheumatoid arthritis (RA). Defective antibody production is a rare but well-recognised cause of both BR and inflammatory arthritis. We examined the hypothesis that subtle specific antibody defects might play a role in the pathogenesis of BR associated with RA.

Exacerbation of atopic dermatitis after bacillus Calmette-Guérin vaccination.

In two children with atopic dermatitis, routine vaccination with bacillus Calmette-Guérin (BCG) was followed by severe exacerbation of skin disease. If the sequence is cause and effect, a possible mechanism is stimulation of a Th2 lymphocyte cytokine profile by the vaccine, with migration of activated lymphocytes to inflamed skin. In children with active atopic dermatitis, BCG vaccination is best deferred until remission.

Raising standards in pathology: the accreditation process in the United Kingdom.

The accreditation scheme established by Clinical Pathology Accreditation (UK) Ltd has been in formal operation since 1992. So far, 933 laboratories have been inspected, nearly two-thirds of all laboratories in the UK. Of these, 73% are fully accredited, 24% have outstanding conditions requiring correction, and 3% have been referred.

The role of the complement cascade in sepsis.

Complement provides a critical and multifaceted defence system against infection. Following activation, complement can clear invading microorganisms by lysis or by opsonization, which promotes recognition by complement receptors on phagocytes. Complement activation products promote a local inflammatory response and are involved in the modulation of adaptive immune responses that lead to antibody production.

Antipolysaccharide antibodies in 450 children with otitis media.

We have measured antibodies to pneumococcal and Haemophilus polysaccharides in a prospective study of 450 children aged 2-16 years with otitis media requiring grommets (ear tubes). Pneumococcal antibody levels were significantly higher in the 2-6 year (P < 0.004) and 7-10 year (P < 0.

Prolidase deficiency and systemic lupus erythematosus.

Two children with prolidase deficiency, an inborn error of proline metabolism, developed clinical and immunological abnormalities consistent with a diagnosis of systemic lupus erythematosus (SLE). The first child died from septicaemia, and SLE was only diagnosed during his terminal illness. As a result of this diagnosis his cousin, who was already known to have prolidase deficiency, was investigated further and a diagnosis of SLE confirmed.

Effect of diagnostic delay on disease severity and outcome in glomerulonephritis caused by anti-neutrophil cytoplasmic antibodies.

Aims: To measure the time between onset of symptoms and intention to treat in patients with anti-neutrophil cytoplasmic antibody (ANCA) associated glomerulonephritis; and to investigate the effect of any delay in diagnosis on disease severity at presentation and outcome.

Methods: All ANCA positive patients with biopsy proven glomerulonephritis presenting in the North West Region over a consecutive period of 57 months were identified from the North West Glomerular Disease Registry. Sixty nine patients were identified and notes from 61 were reviewed.

Antibody deficiency associated with gold treatment: natural history and management in 22 patients.

Objective: To perform a clinical and immunological study of patients with rheumatoid arthritis who develop subnormal serum immunoglobulins on gold treatment; to clarify the nature of the defect in antibody production and determine the natural history of this adverse reaction; to use this information to suggest guidelines for the detection, investigation, and management of this complication.

Methods: 22 patients who developed subnormal levels of one or more immunoglobulin isotypes while receiving gold treatment were recruited over a 10 year period from the practice of a single rheumatologist. Antibody production was assessed by measurement of total immunoglobulins and of specific antibody production against polysaccharide and protein antigens, with test immunisation if necessary.

The immunological background to transplantation.

Organs are transplanted clinically to rectify an irreversible functional deficit but, unless donor and recipient are genetically identical, graft antigens will trigger a rejection response by the recipient. In the early part of this century, experiments on transplantation of tumours showed that there were strict limitations on the ability of tumour grafts to survive. These 'laws of transplantation' were confirmed by the elegant work of Sir Peter Medawar and colleagues who also showed that rejection is a systemic process governed by lymphocytes.

Recurrent meningococcal septicaemia and properdin deficiency.

A 32-year-old male presented with two episodes of meningococcal septicaemia, each of which was caused by a different serogroup of Neisseria meningitidis. Examination of the alternative pathway of complement revealed the rare X-linked disorder properdin deficiency (PD). Meningococcal Infection in complement deficiency states is discussed and the unusual features of this case are highlighted.