THYMIC ALYMPHOPLASIA AND DYSGAMMAGLOBULINEMIA TYPE .I. CLINICAL, IMMUNOLOGICAL, AND PATHOLOGICAL STUDIES OF ONE CASE

A 10-month-old male infant with an unusual form of thymic alymphoplasia associated with dysgammaglobulinemia type I, who develped Pneumocystis carinii pneumonia at 10 months of age, is described. The pneumonia was treated successfully with pentamidine isethionate and gamma globulin; however, attempts at immunological reconstitution by thymus implantation in millipore chambers and fetal liver infusion were unsuccessful. Investigation of the patient's family suggested that the mode of inheritance of this form of thymic alymphoplasia was autosomal recessive. Certain immunologic similarities to the Gitlin (sex-linked) type of thymic alymphoplasia were apparent when mitoses were observed after the patient's lymphocytes were cultured in vitro with allogeneic cells. Pentamidine isethionate was found to inhibit the growth of normal cells in culture. This effect varied with the concentration of the drug present. © 1969 The C. V. Mosby Company.