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Chapter 73 : The Primary Immunodeficiency Diseases

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The Primary Immunodeficiency Diseases, Page 1 of 2

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Abstract:

Patients with primary immunodeficiency diseases most often are recognized because of their increased susceptibility to infection (chronic or recurrent infections without other explanation, infection with an organism of low virulence, or infection of unusual severity). However, these patients may also present with autoimmune or inflammatory disorders (e.g., hemolytic anemia, inflammatory bowel disease, vasculitis, or systemic lupus erythematosus) or as part of a syndrome complex (Table 1). Finally, in the future we will see an increasing number of people who are identified as having an immunodeficiency because of an abnormal newborn-screening test for T-cell receptor-excision circles (TRECs) or a mutation identified by genome sequencing.

Citation: Lederman H. 2016. The Primary Immunodeficiency Diseases, p 711-714. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch73
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References

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1. Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K, Tang ML. 2014. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 5:162.[CrossRef].[PubMed]
2. Chou J, Ohsumi TK, Geha RS. 2012. Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr Opin Allergy Clin Immunol 2:623628.[CrossRef]
3. Ochs HD, Hagin D. 2014. Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment. Ann Allergy Asthma Immunol 112:489495.[CrossRef].[PubMed]
4. Oliveira JB, Fleisher TA. 2010. Laboratory evaluation of primary immunodeficiencies. J Allergy Clin Immunol 125:S297S305.[CrossRef].[PubMed]
5. Rozenzweig SD, Fleisher TA,. 2014. Overview of laboratory studies for evaluating primary immune deficiency disorders, p 6172. In Sullivan KE, Stiehm ER (ed), Stiehm's Immune Deficiencies. Elsevier Academic Press, Amsterdam, The Netherlands.

Tables

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TABLE 1

Examples of immunodeficiency syndromes

Citation: Lederman H. 2016. The Primary Immunodeficiency Diseases, p 711-714. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch73
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TABLE 2

Patterns of illness associated with primary immunodeficiency

Citation: Lederman H. 2016. The Primary Immunodeficiency Diseases, p 711-714. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch73
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TABLE 3

Screening tests for primary immunodeficiency

Citation: Lederman H. 2016. The Primary Immunodeficiency Diseases, p 711-714. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch73

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