Chapter 75 : Combined Immunodeficiencies

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This chapter is dedicated to describing combined immunodeficiencies (CIDs) and useful diagnostic assays. Here, a CID is defined as a defect that affects the two most prominent arms of the adaptive immune system: T cells and B cells. The molecular defect may directly affect both cell types or just one cell type, specifically T lymphocytes, with indirect effects on B-cell function. CIDs are distinguished from severe combined immunodeficiencies (SCIDs) because T-cell numbers and function are higher than per established criteria for SCID and thus may not be detected on SCID newborn screening (NBS). Several CIDs are attributed to distinct genetic mutations in SCID-associated genes. In recent years, the field of immunology has witnessed increased reporting of unique CIDs affecting isolated families or small numbers of individuals. This increase is attributable to the advent of improved genetic testing, such as whole-exome sequencing. In Table 1, we provide a comprehensive list of CIDs, their immunophenotypes, and useful diagnostic tests. Common themes for CIDs include aberrant T-cell development, function, cytoskeletal regulation, and survival. These defects translate to clinical problems secondary to immune deficiency and, in many instances, immune dysregulation. This chapter does not include in-depth description of all CIDs but rather focuses on categorical descriptions and highlights more prevalent genetic abnormalities along with overviews of diagnostic assays for CID confirmation.

Citation: Seroogy C, Elder M. 2016. Combined Immunodeficiencies, p 721-736. 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.ch75
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CIDs, their immunophenotypes, and useful diagnostic tests

Citation: Seroogy C, Elder M. 2016. Combined Immunodeficiencies, p 721-736. 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.ch75

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