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This chapter outlines the major categories of lymphocyte and plasma cell disorders. The disorders can be sorted into three main groups. The first is composed of diseases caused by defects intrinsic to lymphoid cells. The second is caused by disorders that result from factors extrinsic to lymphoid cells. The third is composed of disorders caused by neoplastic or preneoplastic lymphoid cells and is outlined in Chap. 92 using the World Health Organization classification of tumors of lymphoid tissues. The clinical manifestations of diseases in any one of the three groups may be difficult to distinguish, but this grouping can provide a framework with which to proceed in evaluating patients with known or suspected lymphocyte disorders. This chapter introduces the framework and presents a roadmap to other chapters in this book that discuss each of the disorders in greater detail.

Acronyms and Abbreviations

Acronyms and abbreviations that appear in this chapter include: AIRE gene, autoimmune regulator gene; APECED syndrome, autoimmune polyglandular, candidiasis, and ectodermal dystrophy syndrome; Ig, immunoglobulin; IPEX syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome; NK, natural killer; Th, T helper; Tregs, CD4+ regulatory T cells; WHIM syndrome, warts, hypogammaglobulinemia, infections, myelokathexis syndrome.

Lymphocyte and plasma cell disorders can be classified into three major groups. The first group is composed of lymphocyte disorders caused by intrinsic defects in lymphoid cells that result in functional abnormalities of marrow-derived (B) lymphocytes, thymic-derived (T) lymphocytes, both (impaired humoral and cellular immunity), or natural killer (NK) cells (Table 80–1). These disorders primarily result from inborn errors in lymphocyte metabolism (see Chaps. 75, 76, 77, and 82) and/or receptor–ligand expression (see Chaps. 14 and 82). Table 80–1 groups these disorders together as “primary disorders.” The second group consists of disorders caused by factors extrinsic to lymphocytes resulting in immune dysfunction. These conditions most commonly result from infection with viruses or other cellular pathogens (see Chaps. 81, 83, and 84), but they also may be caused by drugs or systemic disease of nonlymphoid cells. Table 80–1 lists these disorders as “acquired disorders.” The third group of diseases is composed of preneoplastic and neoplastic lymphocyte disorders (see Chap. 92).

Table 80–1. Classification of Disorders of Lymphocytes and Plasma Cells

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