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Purpose: This paper aims to explore structural and systemic influences in the development of competence models and qualifications systems at sectoral and national levels across Europe, considering the influences of different socio-economic models of skill formation on the processes of design and provision of qualifications. Design/methodology/approach: The paper is based on a meta analysis of three European projects that used literature review, documentary analysis and interviews with practitioners and policy makers. Findings: The main methodological and practical challenges posed by varieties of competence and qualifications to inter-country comparability of qualifications are shown to be related to different socio-economic models of skill formation. Research limitations/implications: The research is limited to 13 countries and four sectors but these were carefully selected to maximise coverage of European diversity with respect to competence models, training regimes and approaches to qualifications. There is clearly a need for further research involving more countries and sectors. Practical implications: The paper offers recommendations for improving the potential of the European Qualifications Framework to promote comparability of qualifications and hence mobility of labour. These recommendations will be of interest to policy makers and practitioners involved in using the EQF and similar instruments. Originality/value: This is the first systematic attempt to explore the methodological and practical difficulties of establishing comparability between qualifications. (Contains 4 tables.)

Author(s): Stéphanie Rigaud [1, 5]; Marie-Claude Fondanèche [1, 5]; Nathalie Lambert [1, 2]; Benoit Pasquier [1]; Véronique Mateo [1]; Pauline Soulas [1]; Lionel Galicier [3]; Françoise Le Deist [1, 2]; [...]

Objective. To describe a novel syndrome characterized by severe prenatal and postnatal growth failure, mild skeletal and facial abnormalities, and primary immunodeficiency. Design. The syndrome was observed in 2 sisters. The elder child died of cytomegalovirus infection when she was 18 months old, whereas the younger sister is doing well at 5 years old. We report here clinical, hematologic, and immunologic data for both sisters and compare them with all known inherited disorders with similar clinical or immunologic features. Results. The immune defect consists of a lack of detectable natural killer cells and small numbers of CD8 [alpha][beta] T cells and polymorphonuclear neutrophils. This is the first report of prenatal and postnatal growth failure associated with mild skeletal and facial abnormalities and primary immunodeficiency. Conclusion. This novel syndrome probably is caused by an autosomal recessive gene defect impairing both intrauterine growth and natural killer cell development. The identification of other kindreds with this syndrome would facilitate the search for its genetic basis. Pediatrics 2004;113:136-141; intrauterine growth retardation, dysmorphy, primary immunodeficiency, NK cells, viral disease., More than 100 primary immunodeficiency diseases (PIDs) have been clinically and immunologically characterized. Most of these PIDs have now been characterized at the molecular genetic level. (1,2) PIDs result in [...]

Gene therapy was used to successfully treat five boys with a severe immune disorder called severe combined immunodeficiency, or SCID. This disease is caused by a gene mutation. Bone marrow cells were removed from each boy and were treated with a retrovirus that introduced a copy of the normal gene into the cells. The cells were then given back to each boy as an intravenous infusion.

A four-month-old child with IPEX syndrome was treated with a bone marrow transplant, but died at the age of three. IPEX syndrome is an X-linked autoimmune disease that is usually fatal.

Research has been conducted on the variable, diversity, joining gene segments expressed by a mechanism known as V(D)J recombination. The cloning of the gene Artemis which encodes a protein involved in the V(D)J recombination /DNA repair has been carried out and the results of the protein sequence analysis suggest that this gene belongs to the metallo-beta-lactamase superfamily.

A case is reported of a boy with X-linked severe combined immunodeficiency whose gene mutation spontaneously reverted to normal. This disease is caused by a gene mutation on the X chromosome that interferes with the development of T cells and B cells. He developed pneumonia at 6 months of age and was diagnosed with X-linked severe combined immunodeficiency at the age of 1 year. The diagnosis was made because his B cells contained the gene mutation. However, his T cells contained the normal gene, indicating that the mutation had reverted to normal during the early stages of T cell formation.

Complications from vaccines for tuberculosis appear to be rare but extensive and severe. Researchers identified 16 unrelated children with Calmette-Guerin bacterial (BCG) infections associated with tuberculosis vaccines but no other immune disease. This represents a prevalence of 0.59 BCG infections per 1 million children vaccinated. Half of these children died. BCG infections were identified most frequently in the lymph nodes but also in the lungs, skin, soft tissues, liver, spleen, and bone., ABSTRACT. Objective. Disseminated bacillus Calmette-Guerin (BCG) infection after inoculation of live vaccine is considered to result from impaired immunity of the child. However, in half of the cases, regarded as [...]

A five-month-old boy with X-linked hyper-immunoglobulin (Ig) M syndrome received a successful bone marrow transplant and regained normal immune function within 6 months. X-linked hyper-IgM syndrome is a genetic immunodeficiency disease in which patients fail to convert IgM to other immunoglobulins (IgG, IgA, IgE) and may develop potentially fatal opportunistic infections. The patient had a family history of the syndrome, including two fatal cases, and had developed a Pneumocystis carinii infection. As a result, he received an allogeneic bone marrow transplant from his sister. Incorporation of the transplant was shown by a change in blood type and altered expression of the gene which had caused the syndrome. Six months after the transplant the patient had normal levels of IgG, IgA, and IgE and normal T- and B-cell counts. Seventeen months after the transplant his condition remained good. In general, the relationship of genetic make-up to the severity of this syndrome is not understood.

Immunological deficiency syndromes caused by immune cell abnormalities may be associated with a variety of disorders and appears to be best treated with bone marrow transplantation (BMT). Researchers analyzed clinical and immunological data for 25 children with an immune cell deficiency disorder. In most cases, the first clinical sign of immunodeficiency appeared within the first year of life. Among 22 patients, the first sign was severe and lengthy infection, mainly of the respiratory tract or the intestines. Viral infections occurred in almost two-thirds of the children. About 60% had autoimmune, or self-directed, responses. Most autoimmune disorders were directed against bone marrow-derived cells. In addition, 12 children developed allergies including eczema, asthma and hives. Eight of 19 children who did not receive BMT died. Four of six patients received BMT remain alive and their immune disorders have been corrected., Objective. To review the clinical presentation and outcome of patients with an unusual primary T + B lymphocyte immunodeficiency syndrome, characterized by the presence of T lymphocytes with no detectable gross phenotypic anomaly, but which are not activated in vitro or in vivo in response to antigens, although they do respond to mitogens. Methods. A retrospective analysis of clinical and immunological data recorded in 25 cases. Acquired immunodeficiencies and known primary T cell immunodeficiency syndromes (severe combined immunodeficiency syndrome, Di-George syndrome, Wiskott-Aldrich syndrome, cartilage hair hypoplasia, Omenn's syndrome, ataxia telangiectasia, defective expression of major histo-compatability complex class II molecules, and defective expression of the CD3/T cell receptor complex) were excluded. Results. The patients had severe and particularly protracted infections, mainly of the respiratory tract and gut. Severe viral infections, generally due to herpes viruses, occurred in nearly two-thirds of the patients, with a median follow-up of 54 months. Autoimmune manifestations are frequent (60%), targetting mainly marrow-derived cells, and were characterized by a tendency to relapse and by a dependence on immunosuppressive therapy. Allergic manifestations were also frequent (48% of cases). Eight of the 19 patients who had not undergone bone marrow transplantation died. All but one of the 11 survivors had moderate to severe sequelae. Bone marrow transplantation seemed to be the treatment of choice, because four of six recipients of HLA-identical (n = 2) or nonidentical (n = 4) marrow are alive and the immune deficiency has been corrected. Conclusion. Early recognition of these life-threatening syndromes may improve the chances of cure. Despite common clinical manifestations and prognosis, these functional immunodeficiencies appear heterogeneous regarding inheritance pattern and at least existence of a B cell immunodeficiency. Pediatrics 1994;93:265-270; primary immunodeficiency, functional anomalies.

The immune system contains many checks and balances. Often, the immune response to some infection requires the rapid proliferation (multiplication) of some white blood cells, often B lymphocytes, but the checks and balances prevent this proliferation from going too far once the necessary immune response is complete. In some conditions, however, the regulatory system breaks down. Normal individuals routinely suppress infection with Epstein-Barr virus without any awareness. However, if a person is tired or run down, the proliferation of cells generated to fight the virus may not be halted by the checks and balances, and mononucleosis results. If a patient is severely immunocompromised the same sort of proliferative response of the B lymphocytes rages unchecked in a potentially deadly B-lymphoproliferative syndrome. Patients receiving transplants of bone marrow or other organs are often treated to suppress the immune response (to prevent rejection of the donated tissue). While the risk of infection in these patients is far greater than the risk of lymphoproliferative syndrome, if lymphoproliferative disease occurs it can be deadly. A study was undertaken to determine the feasibility of using antibodies against human B cells to bring B lymphoproliferative syndrome into check. Two different antibodies that react specifically with B cells were used to treat the disorder in 14 patients following bone marrow transplantation and in 12 patients following transplantation of organs. The prognosis for B-lymphoproliferative syndrome is particularly poor in patients with donor bone marrow; 29 of 32 reported patients have died. In the present series of patients, 16 patients were able to achieve complete remission. Five of 14 bone marrow patients and 6 of 12 organ transplant recipients remain alive and free of disease an average of 35 months after treatment. This study was not controlled, and the grave nature of the disorder required that the antibody treatment was not the only treatment administered to these patients. However, although the recovery of the patients can not be attributed to the antibody treatment with certainty, the results suggest that antibodies against B cells may be effective in controlling some forms of B-lymphoproliferative disorder. (Consumer Summary produced by Reliance Medical Information, Inc.)

The disease progression of 94 infants who were infected with human immunodeficiency virus (HIV) at birth was assessed after the appearance of their first clinical symptoms. Some children developed early and severe disease, whereas the illness was slow and progressive in others. Opportunistic infections, which occur when host defenses are weakened, developed early in one-third of the children. Patients with opportunistic infections had a higher incidence of severe encephalopathy, or impaired brain function, than those without these infections, and had a survival rate of 48 percent at three years. Patients without opportunistic infections or severe encephalopathy had a survival rate of 97 percent at three years. Lymphoid interstitial pneumonitis is a type of lung disease characterized by inflammation and disruption of the walls of the alveoli, the gas-exchanging units of the lungs. This disorder developed at an average age of 29 months, much later than opportunistic infections and encephalopathy. The laboratory findings correlated with clinical symptoms. A decrease in the number of CD4 cells, a type of immune cell, to less than 500 per cubic millimeter and abnormal immune responses were associated with more frequent development of life-threatening complications, such as opportunistic infections and encephalopathy. A reduction in the level of antibodies to HIV was associated with the development of severe encephalopathy. These findings show that most infants who contract HIV infection at birth have a longer survival and less severe clinical symptoms during their first years of life than was previously thought. However, a subgroup of HIV-infected infants develop early signs of severe immunodeficiency and encephalopathy. (Consumer Summary produced by Reliance Medical Information, Inc.)