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The Primary Immunodeficiencies
New England Journal of Medicine, 1984The primary immunodeficiency disorders reflect abnormalities in the development and maturation of cells of the immune system. These defects result in an increased susceptibility to infection; recurrent pyogenic infections occur with defects of humoral immunity, and opportunistic infections with defects of cell-mediated immunity.
F S, Rosen, M D, Cooper, R J, Wedgwood
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Malakoplakia and Primary Immunodeficiency
The Journal of Pediatrics, 2014Malakoplakia, a rare granulomatous disease caused by impaired macrophage response, has been reported only rarely in children. We report 3 unique cases, with lesions occurring in unusual locations in children with primary immune deficiencies.
Sydney R. Archer +8 more
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Approach to primary immunodeficiency
Allergy and Asthma Proceedings, 2019Primary immunodeficiency diseases are inherited defects of the innate or adaptive arms of the immune system that lead to an increase in the incidence, frequency, or severity of infections and/or immune dysregulation. There may be defects in the adaptive arm of the immune system, including combined immunodeficiencies and antibody deficiency syndromes ...
Ashley L, Devonshire, Melanie, Makhija
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Primary Immunodeficiency and Rhinosinusitis
Immunology and Allergy Clinics of North America, 2020Refractory rhinosinusitis can be related to comorbid medical conditions, including primary immunodeficiency. Given the prevalence of immunodeficiency, clinicians should have a low threshold to consider these diagnoses. This article reviews primary immunodeficiencies contributing to chronic rhinosinusitis, including a proposed diagnostic work-up and the
Camille, Huwyler +2 more
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Cytomegalovirus in primary immunodeficiency
Current Opinion in Infectious Diseases, 2021Purpose of review Cytomegalovirus (CMV) infection and disease are well described in the setting of secondary immunodeficiency. Less is known about CMV in the context of primary immunodeficiencies (PIDs), where inborn errors in one or more arms of the immune system result in variable degrees of CMV susceptibility.
Jack, Godsell +6 more
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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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Primary Immunodeficiency and the Gut
Gastroenterology Clinics of North America, 2019This article presents the most common gastrointestinal, hepatic, and pancreatic manifestations of the primary immunodeficiency diseases, including the appropriate laboratory testing, endoscopic evaluation, and recommendations for further management.
David, Schwimmer, Sarah, Glover
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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 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
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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