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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary immunodeficiency states result from developmental or functional failure within one or more of the immune compartments. While viral infections are rarely a serious consequence of complementor of phagocyte deficiencies, they are frequently seen with T or B cell deficiencies and may be associated with unusual presentation or pattern of disease. Here primary immunodeficiency is reviewed according to the WHO classification with consideration to the major effector system involved. Viral infections are considered in more detail in relation to those conditions in which they contribute significantly to infectious complications: antibody deficiencies, combined immunodeficiency and immunodeficiency associated with other major defects.
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PMID:Viral infections complicating primary immunodeficiencies. 156 56

Primary immunodeficiency syndromes may be seen as "experiments of nature", giving insights into the organization and function of the human immune system. The principal categories of primary immunodeficiency syndromes: severe combined immunodeficiency, agammaglobulinemia and isolated T-cell defects (e.g. Di George Syndrome) are still used in view of their leading clinical presentations. However, detailed analysis of individual cases and families now shows a plethora of different diseases in each category. In this review the relationship of primary immunodeficiency diseases of the B-cell system and autoimmune phenomena are discussed. The pathology of thymus in severe combined immunodeficiency is shown: central maturation defects of the T-cell system are not due to "dysplasia" of the thymus but rather to enzyme defects of the lymphatic cells. Severe alterations of the thymus may also be caused by graft versus host disease. The clarification of genetic defects of lymphoid differentiation and maturation today may lead to improved early and prenatal diagnosis as well as specific gene therapy. The success of bone marrow transplantation in many cases of primary immunodeficiency disease syndromes may be considered as a consequence of successful gene therapy.
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PMID:[Inborn immunodeficiencies]. 172 40

The classification of the pediatric acquired immunodeficiency syndrome (AIDS) is based on epidemiologic, immunologic, and virologic data. Persons at risk include mothers who use intravenous drugs, infants who have received blood transfusions from subjects with risk factors, patients receiving factor VIII therapy, and infants born to heterosexual mothers with bisexual husbands. A distinct immunologic phenotype, rarely seen in other immunodeficiency disorders, is associated with pediatric AIDS consisting of polyclonal hypergammaglobulinemia and T-cell immunodeficiency. Detection of antibody to the AIDS retrovirus or isolation of virus are essential in establishing a diagnosis. During early infancy, viral isolation is essential as passive transfer of material IgG may occur. Primary immunodeficiency diseases, in particular adenosine deaminase and purine nucleoside phosphorylase deficiency, should be excluded. A diagnosis of pediatric AIDS may be established in a patient who has a risk factor associated with AIDS, polyclonal hypergammaglobulinemia, T-cell immunodeficiency, and antibody to the AIDS retrovirus or isolation of virus.
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PMID:The acquired immunodeficiency syndrome in infants and children. 299 9

A substantial proportion of patients with primary immunodeficiency diseases develop tumors, particularly those of lymphoreticular system caused by Epstein-Barr virus (EBV). Primary immunodeficiency renders patients susceptible to EBV by reducing immune reactions and surveillance abilities against the virus or inducing overreaction of the responding cells to the antigens. Recent progress in molecular biology has unraveled the genes responsible for several types of primary immunodeficiency diseases. The cloning of the ATM gene demonstrated that the mutations in this gene were observed in the members of all the families affected with ataxia telangiectasia (AT), indicating the crucial role of this gene in the pathogenesis of AT. The protein encoded by the ATM gene shows a high sequence homology with several proteins which are presumed to be involved in the regulation of the cell cycle transition. Accumulating evidence indicates that AT-derived cells are sensitive to irradiation due to the abnormalities in p53-dependent cell cycle arrest at G1 phase. Thus, the ATM product may regulate the cell cycle at G1 phase in a p53-dependent manner and the defect of the gene may lead to the accumulation of cells with DNA damages, thereby causing malignant transformation.
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PMID:[Primary immunodeficiency diseases]. 853 51

Primary immunodeficiency (ID) has an incidence of 1 in 10,000 and may have significant morbidity and mortality if not diagnosed and treated early. Children with signs and symptoms suggestive of immunodeficiency are often seen first by their paediatrician or family medical practitioner. For these reasons, it is essential that primary care physicians both of children and adults should be able to recognize the signs and symptoms of immunodeficiency and be knowledgeable about the screening procedures useful in the diagnosis of these diseases. However, this process is often complicated by the diverse presentations of immunodeficiency and the lack of specificity and relative inaccessibility of screening tests. The purpose of this paper is to address the major problems in diagnosis of immunodeficiency, including: 1) Which patients to seriously consider for diagnosis? 2) How to begin the work-up for primary immunodeficiency? 3) Which procedures are useful in the diagnosis of the various forms of immunodeficiency? and 4) What is the relative importance of immunoglobulin (IgG) subclasses?
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PMID:Common problems in the diagnosis of immunodeficiency in children. 883 56

Primary immunodeficiency disorders are genetically determined failures of immune defense that increase susceptibility to infectious agents. This article reviews the salient features of equine primary immunodeficiency disorders, summarizes the molecular mechanisms of each disorder, and updates information that facilitates diagnosis and management of affected horses. The central theme is to encourage clinicians to ask, "I wonder if this horse has an underlying primary immunodeficiency disorder?" when caring for horses suffering from chronic and recurring infections and responding poorly to standard therapy.
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PMID:Primary immunodeficiencies of horses. 1075 41

Primary immunodeficiency comprises a heterogeneous group of disorders. Autoimmune and/or rheumatic manifestations are not uncommon in these patients. It may be the first and/or sole sign before the underlying disease is established. This study focuses on the children of primary immunodeficiency with autoimmune disease to survey the clinical and laboratory finding retrospectively. From January 1985 to June 1998, ten patients (M:F = 9:1) of primary immunodeficiency with at least one well defined autoimmune disease were identified. The underlying immunodeficiency included three with Bruton's disease, three with common variable immunodeficiency, one with hyper-IgM, one with primary CD4 T-cell deficiency and two with Wiskott-Aldrich syndrome. The autoimmune manifestations include arthritis in six, ulcerative colitis in one, and autoimmune hemolytic anemia in three children. The major treatment was steroid and non-steroid anti-inflammatory drug. Infection could be controlled with antibiotics and intravenous immunoglobulin in all save one. The morbidity among these patients included bronchiectasis with pulmonary hypertension in three, joint stiffness, short stature, and delayed puberty in two. In conclusion, autoimmune diseases are frequently seen in patients with primary immunodeficiency. It could be the first and/or sole sign of disease. The possibility of immunodeficiency should be kept in mind when evaluating patients with autoimmune diseases.
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PMID:Autoimmune manifestations in patients with primary immunodeficiency. 1091 Jun 21

Primary immunodeficiency syndromes are rarely diagnosed among adults. In this report, we describe a young male who had common variable immunodeficiency. He was treated with intravenous immunoglobulin and, on follow up, has been free of opportunistic infections.
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PMID:Common variable immunodeficiency in an adult. 1108 23

Primary immunodeficiency diseases often fully meet the definition of "experiments of nature." Much of the expanding understanding of the lymphoid systems and immunologic functions generated in recent years has been derived from studying patients with primary, generally genetically determined immunodeficiency diseases, as well as other relatively rare secondary immunodeficiency diseases. Increasing knowledge of immunologic defenses, their interacting cellular and molecular components, the evolving details of sequential stages of cellular differentiation, and the nature and control of the cellular and molecular interactions in immunity have now made it possible to define precisely many primary immunodeficiency diseases in full molecular genetic terms. With this wealth of scientific information based on experimental and clinical research, incredible advances have also been made in using bone marrow transplantation (BMT) often as a curative treatment for immunodeficiency, some 60 to 70 other diseases, leukemias, lymphomas, other cancers, and a rapidly expanding constellation of metabolic diseases or enzyme deficiencies. Also, progress in applying allogeneic BMT to prevent, treat, and cure complex autoimmune diseases, primary immunodeficiency diseases and certain forms of cancers, is considered. Further, mixed BMT (syngeneic plus allogeneic) that establishes a form of stable mixed chimerism has also been employed in animal experiments, which revealed that BMT can be used to treat not only immunodeficiency diseases, but also systemic and organ-specific autoimmune diseases, eg, diabetes and erythematous lupus-like diseases. Moreover, performing BMT in conjunction with organ allografts, eg, thymus or pancreatic transplants, has successfully prevented rejection of these allografts, sometimes without recourse to long-term irradiation or toxic chemical immunosuppressive agents. A crucial role for stromal cells in cellular engineering has now also been realized in animal models as a means of preventing graft rejection and promoting full and persistent reconstitution or correction of genetically-based diseases. With all of these achievements, BMT promises continued dramatic and impressive new approaches to clinical and scientific research and reveals an attractive strategy for the treatment and prevention of many currently intractable human diseases. If these achievements can be extended to larger outbred animals and humans, BMT may set the stage for induction of improved immunologic tolerance and for developing treatments for additional intractable human diseases in the 21st century.
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PMID:Historical and current perspectives on bone marrow transplantation for prevention and treatment of immunodeficiencies and autoimmunities. 1130 46

Primary immunodeficiency diseases represent a vast array of inherited disorders of the immune system. Major advances in the understanding of genetic basis and molecular mechanisms have occurred within the past 10 years, as a result of the tools of modern genetics. About three quarters of 100 primary immunodeficiency diseases can now be reliably diagnosed with molecular probes. In many cases, gene identification has enabled significant insight into the physiopathology of the related conditions. Therapeutic progress based on protein engineering and possibly gene therapy will also ensue.
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PMID:Primary immunodeficiency diseases: an experimental model for molecular medicine. 1141 Feb 13


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