Amniocentesis conducted during genetic counseling of a pregnant woman reveals a fetal adenosine deaminase deficiency. This autosomal recessive immunodeficiency is usually associated with which of the following?
High-Yield Explanation
Immunodeficiency disorders can be categorized according to whether the defect primarily involves humoral immunity (bone marrow derived, or B lymphocytes) or cellular immunity (thymus derived, or T lymphocytes) or both. Swiss-type hypogammaglobulinemia, ataxia-telangiectasia, the Wiskott-Aldrich syndrome, and severe combined immunodeficiency disorders all involve defective B-cell and T-cell function. Infantile X-linked agammaglobulinemia is caused chiefly by deficient B-cell activity, whereas thymic hypoplasia is mainly a T-cell immunodeficiency disorder.The fetus represented has severe combined immunodeficiency disease (SCID) characterized by defects in early stem cell differentiation. As a result, B cells and T cells are both defective, immunoglobulins are very low, and tonsils and lymph nodes are absent.