Clinical Consequences and Treatment of Primary Immunodeficiency Syndromes Characterized by Functional T and B Lymphocyte Anomalies (Combined Immune Deficiency)

Objective. To review the clinical presentation and outcome of patients with an unusual primary T+B lymphocyte immunodeficiency syndrome, characterized by the presence of T lymphocytes with no detectable gross phenotypic anomaly, but which are not activated in vitro or in vivo in response to antigens, although they do respond to mitogens. Methods. A retrospective analysis of clinical and immunological data recorded in 25 cases. Acquired immunodeficiencies and known primary T cell immunodeficiency syndromes (severe combined immunodeficiency syndrome, Di-George syndrome, Wiskott-Aldrich syndrome, cartilage hair hypoplasia, Omenn's syndrome, ataxia telangiectasia, defective expression of major histocompatability complex class II molecules, and defective expression of the CD3/T cell receptor complex) were excluded