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Primary immunodeficiency registries
Current Opinion in Allergy & Clinical Immunology, 2007Research in the field of rare diseases such as primary immunodeficiencies can be significantly improved with sufficient patient numbers. Patient registries can help provide the basis for this by collecting data over a longer period of time and by connecting centres nationally or even internationally. The present article reviews recent publications both
Knerr, Viviane, Grimbacher, Bodo
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Primary Immunodeficiency Diseases
1976Rare individuals, experiments of nature who suffer the often devastating consequences of a congenital defect within the immune system, have served to teach us much of what we know today about the complex immune response of man (36,39,54). From a careful study of them and their diseases, together with related studies in the laboratory, we have learned ...
R A, Good, M A, Hansen
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Primary Immunodeficiency Disorders
Immunology and Allergy Clinics of North America, 2015We are very pleased to be presenting this issue on Primary Immunodeficiency Disorders (PIDD). PIDD is an essential clinical topic for Allergy/Immunology practitioners as well as primary care providers. Given the delay in diagnosis of over ten years in most patients, it is incumbent on us to have a better understanding of these disorders and to get the ...
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Primary Immunodeficiency Syndromes
2010Several DNA repair pathways have evolved to recognise and repair DNA damaged by exogenous and endogenous agents, in order to maintain genomic integrity. Defects in these pathways can lead to replication errors, loss or rearrangement ofgenomic material, mutation or cancer and eventual death.
Mary A, Slatter, Andrew R, Gennery
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Primary cellular immunodeficiencies
Journal of Allergy and Clinical Immunology, 2002Genetic defects in T-cell function lead to susceptibility to infections or to other clinical problems that are more grave than those seen in disorders resulting in antibody deficiency alone. Those affected usually present during infancy with either common or opportunistic infections and rarely survive beyond infancy or childhood. The spectrum of T-cell
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Primary Immunodeficiency Diseases
JAMA: The Journal of the American Medical Association, 1997Primary immunodeficiencies are rare, but important for 3 reasons. First, a high index of suspicion and prompt diagnosis can lead to lifesaving treatment or significant improvement in quality of life. Second, appreciation of the genetic nature of a host defense defect makes possible family counseling and carrier and prenatal diagnosis.
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PRIMARY IMMUNODEFICIENCY DISORDERS
Primary Care: Clinics in Office Practice, 1998The primary immunodeficiency diseases are a relatively rare group of congenital disorders that are linked by the expression of an excessive number, duration, or severity of infections. The clinical features of most of the primary immunodeficiency diseases have been well described by astute physicians over several decades and have provided important ...
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The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society, 1992
Primary immunodeficiencies are rare immune system disorders that present with recurrent and chronic infections of the head and neck. Otitis media, sinusitis, and upper respiratory tract infections develop frequently and present in early childhood. The purpose of this report is to classify and define the primary immunodeficiencies as well as to examine ...
K, Worley, J A, White
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Primary immunodeficiencies are rare immune system disorders that present with recurrent and chronic infections of the head and neck. Otitis media, sinusitis, and upper respiratory tract infections develop frequently and present in early childhood. The purpose of this report is to classify and define the primary immunodeficiencies as well as to examine ...
K, Worley, J A, White
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