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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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Classification of Primary Immunodeficiencies
New England Journal of Medicine, 1973Primary specific immunodeficiency results from failure to manifest an efficient humoral or cellular immune response.
M D, Cooper +9 more
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Progress in primary immunodeficiency
Immunology Today, 1992Clinically, primary immunodeficiencies can be grouped into several well-defined syndromes. This consistent clinical picture, however, belies the enormous complexity of lymphocyte maturation and activation, and it has long been suspected that numerous distinct underlying defects give rise to primary immunodeficiencies.
S, Matsumoto +4 more
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Primary Immunodeficiencies of Horses
Veterinary Clinics of North America: Equine Practice, 2000Primary 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 ...
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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 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 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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Gene Therapy for Primary Immunodeficiencies
Hematology/Oncology Clinics of North America, 2010Gene therapy has effectively entered Medicine via the field of primary immunodeficiencies (PID). Because hematopoietic stem cells are accessible and because it was understood that genetic correction of lymphocyte progenitor cells carrying a genetic defect impairing differentiation, could result in the production of long‐lived T lymphocytes, it was ...
A, Fischer +3 more
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Primary Immunodeficiency in the NICU
NeoReviews, 2019Primary immunodeficiency disorders (PIDs) are genetic diseases that lead to increased susceptibility to infection. Hundreds of PIDs have now been described, but a select subset commonly presents in the neonatal period. Neonates, especially premature newborns, have relative immune immaturity that makes it challenging to differentiate PIDs from intrinsic
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