TY - CHAP M1 - Book, Section TI - Primary Immunodeficiency Syndrome A1 - Lichtman, Marshall A. A1 - Kaushansky, Kenneth A1 - Prchal, Josef T. A1 - Levi, Marcel M. A1 - Burns, Linda J. A1 - Linch, David C. PY - 2022 T2 - Williams Manual of Hematology, 10e AB - Primary immune deficiency diseases (PIDDs) are characterized by an increased susceptibility to infections, often associated with autoimmunity and inflammation, and an increased risk of malignancies because of impaired immune homeostasis and surveillance.Clinical presentation varies depending on the nature of the immune defect. The principal clinical features of PIDDs are listed in Table 51–1.With the exception of immunoglobulin (Ig) A deficiency and DiGeorge syndrome, PIDDs are generally rare, with a prevalence of approximately 1 in 10,000 to 50,000 individuals.Most forms follow Mendelian inheritance and present in childhood; however, some, such as common immunodeficiency, have a multifactorial origin and appear later in life.The diagnostic approach is based on a detailed family and clinical history, physical examination, and appropriate laboratory tests. Laboratory results should be compared with age-matched control values because white blood cell counts, lymphocyte subsets, complement components, Ig levels, and antibody production (especially to polysaccharide antigens) undergo significant changes and progressive maturation in the first years of life.Recognition of PIDDs is essential to start optimal therapies at an early age. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - hemonc.mhmedical.com/content.aspx?aid=1189334986 ER -