Sections View Full Chapter Figures Tables Videos Full Chapter Figures Tables Videos Supplementary Content ++ INTRODUCTION ++ Primary immune deficiency diseases (PIDDs) are characterized by increased susceptibility to infections and are determined by the failure of either the humoral or cellular arms of the immune system or both. The clinical features of PIDDs are listed in Table 51–1. — Characterized, principally by recurrent pyogenic bacterial infections, including sinusitis, furunculosis, and recurrent or chronic pneumonias that often terminate in bronchiectasis. These infections are initially responsive to antibiotics but soon relapse. Evaluation of serum immunoglobulin (Ig) levels and specific antibody responses in patients with recurring infections without an apparent predisposing cause should be made. — Baseline Ig levels are often low or virtually absent. — Antibody response to immunization is often inadequate. Abnormality of cellular immunity causes: — Susceptibility to viral, protozoal, and fungal infections. — Patients are often anergic. Rejection or clearance of allogeneic cells may be impaired. — There may be a secondary defect in humoral immunity because of T-cell dysfunction and loss of B-cell helper activity. Autoimmune diseases such as immune-mediated hemolytic anemia, thrombocytopenia, or rheumatoid arthritis-like conditions occur at a higher frequency in certain primary immunodeficiency states. The more severe primary immune deficiencies are usually present in infancy, although common variable immunodeficiency (CVID) often presents later in life. In Ig-deficient patients, treatment with intravenous immunoglobulin (IVIG) may decrease infectious events. The autosomal recessive syndromes are frequently the result of consanguineous marriages. ++Table Graphic Jump LocationTABLE 51–1CLINICAL FEATURES OF PRIMARY IMMUNODEFICIENCY DISORDERSView Table|Favorite Table|Download (.pdf) TABLE 51–1 CLINICAL FEATURES OF PRIMARY IMMUNODEFICIENCY DISORDERS Neutrophils numerical or functional defects Complement deficiencies Antibody deficiencies Combined immune deficiencies Severe bacterial and fungal infections Skin or deep bacterial and fungal abscesses Infections sustained by unusual bacteria and fungi Recurrent or severe infections sustained by encapsulated pathogens Recurrent Neisseria meningitidis infections Autoimmune manifestations (SLE-like) Atypical hemolytic uremic syndrome Recurrent angioedema (C1-INH deficiency) Recurrent infections after 4–6 months of age Intestinal Giardia lamblia infection Enterovirus meningoencephalitis Early-onset respiratory and gut infections Opportunistic infections Growth failure Persistent candidiasis Erythroderma SLE, systemic lupus erythematosus.Source: Williams Hematology, 8th ed, Chap. 82, Table 82–1, p. 1154. ++ PREDOMINANT ANTIBODY DEFICENCIES ++ X-Linked and Autosomal Recessive Agammaglobulinemia ++ Definition and Genetic Features ++ Caused by maturation defect in B-cell development. X-linked agammaglobulinemia is the result of a mutation in the Bruton tyrosine kinase (BTK) gene. Autosomal recessive agammaglobulinemia is the result of mutations in genes relevant to immunoglobulin heavy or light chains, i.e., IGHM, IGLL1, CD79a, CD79b or the B-cell adaptor molecule, BLINK. ++ Clinical Features ++ X-linked and autosomal recessive agammaglobulinemia have similar clinical features: low Ig levels, decreased B cells, and recurrent infections. Normal levels of IgG at birth as a result of transfer from maternal circulation. Thus, usually asymptomatic for the first few months of life. Symptoms and signs vary and may be mild or severe (see ... GET ACCESS TO THIS RESOURCE Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth Get Free Access Through Your Institution Contact your institution's library to ask if they subscribe to McGraw-Hill Medical Products. What is MyAccess? Create a FREE MyAccess profile to: Use this site remotely Bookmark your favorite content Track your self-assessment progress and more!