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Primary immunodeficiency diseases are a heterogeneous group of inherited disorders with defects in one or more components of the immune system.
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Primary immunodeficiency diseases are not as rare as once believed.
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Infections are the hallmark of immunodeficiency.
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Delays in diagnosis can lead to irreparable organ system damage and thus immunodeficiency should be promptly considered.
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Other symptoms may be more prominent at first, and this can be misleading.
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Family history is of paramount importance.
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Pattern recognition among clinical presentations is an efficient means of identifying primary immunodeficiency diseases within the large pool of patients with infections.
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Abnormal patterns in host defense can only be identified by having a firm grasp of what is considered “normal”.
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Severe defects should be considered and identified promptly using widely available screening tests such as the absolute peripheral blood lymphocyte count.
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Keywords
- Allergy Clin Immunol
- Chronic Granulomatous Disease
- Primary Immunodeficiency
- Common Variable Immunodeficiency
- Primary Immunodeficiency Disease
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Rezaei, N., Bonilla, F.A., Sullivan, K.E., de Vries, E., Orange, J.S. (2008). An Introduction to Primary Immunodeficiency Diseases. In: Rezaei, N., Aghamohammadi, A., Notarangelo, L.D. (eds) Primary Immunodeficiency Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-78936-9_1
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