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INTRODUCTION

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AADC Aromatic L-amino acid decarboxylase
ACA Antibodies recognizing the adrenal cortex
ADCC Antibody-dependent cell-mediated cytotoxicity
AICD Activation-induced cell death
AIRE Autoimmune regulator gene
APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
APS Autoimmune polyendocrine syndrome
BB Bio breeding
BCR B-cell receptor
cAMP Cyclic adenosine monophosphate
CaSR Calcium-sensing receptor
CD Cluster of differentiation
CTLA Cytotoxic T lymphocyte antigen
DPT Diabetes Prevention Trial
FOXP3 Forkhead box P3
GABA Gamma-aminobutyric acid
GAD Glutamic acid decarboxylase
HLA Human leukocyte antigen
IA-2 Islet cell antigen-2 (tyrosine phosphatase)
IFN Interferon
IL Interleukin
IPEX Immunodeficiency, polyendocrinopathy, and enteropathy, x-linked
LFA Lymphocyte function-associated antigen
MHC Major histocompatibility complex
NALP1 NACHT leucine-rich-repeat protein 1
NALP5 NACHT leucine-rich-repeat protein 5
NK Natural killer (cells)
NOD Nonobese diabetic (mice)
SCA Steroid-producing cell antibodies
SCID Spontaneous combined immunodeficiency
TAP Transporter associated with antigen processing
TBI Thyrotropin-binding inhibition
TCR T-cell receptor
TD Thymus-dependent
Tg Thyroglobulin
TI Thymus-independent
TNF Tumor necrosis factor
TPO Thyroperoxidase
TSH Thyroid-stimulating hormone
TSH-R Thyrotropin receptor
TSI Thyroid-stimulating immunoglobulin
VNTR Variable number of tandem repeats

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Epidemiologic analysis of a large population reported that about 1 of 30 (3.2%) people in the United States are currently affected by autoimmune diseases. Graves disease, type 1 diabetes, pernicious anemia, rheumatoid arthritis, Hashimoto thyroiditis, and vitiligo are the most prevalent such conditions, accounting for 93% of affected individuals. A more global approach at calculating prevalence led to a corrected estimate between 7.6% and 9.4% of the world’s population as affected by autoimmune diseases (2.5 in 30 people worldwide).

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These autoimmune diseases have traditionally been looked upon as forming a spectrum. At one end are found organ-specific diseases with organ-specific targets. Hashimoto thyroiditis is an example in which a specific lesion affects the thyroid (lymphocytic infiltration, destruction of follicular cells) and autoantibodies are produced with absolute specificity for thyroid proteins. At the other end of the spectrum are the systemic autoimmune diseases, broadly belonging to the class of rheumatologic disorders. Systemic lupus erythematosus is an example of a disease characterized by widespread pathologic changes and a collection of autoantibodies to DNA and other nuclear constituents of all cells. Many organ-specific autoimmune diseases are autoimmune endocrinopathies. Furthermore, most endocrine glands are subject to autoimmune attack including the adrenals (autoimmune Addison disease), gonads (autoimmune oophoritis), pancreas (type 1 diabetes), pituitary (autoimmune hypophysitis), and thyroid (autoimmune thyroid disease) (Table 2–1).

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TABLE 2–1Some autoimmune endocrinopathies, antigens, and autoantibodies.

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