We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after which a gradual decrease in T-cell immunity developed. This selective cellular immunodeficiency was inherited as an autosomal recessive trait: two older sisters had the same immunodeficiency. Adenosine deaminase activity was present in erythrocytes and lymphocytes of the patient, parents and a healthy brother. Purine nucleoside phosphorylase activity was not found in the patient's erythrocytes and lymphocytes (the parents and brother had intermediate values, indicating that the enzyme deficiency too was inherited as an autosomal recessive trait). Analysis of serum and urine from the patient and of serum from her two deceased sisters showed high levels of inosine and guanosine in addition to hypouricemia and hypouricosuria. The bone marrow was megaloblastic, and the blood hypochromic microcytic. The patient had spastic tetraparesis. Intoxication of the T lymphocytes after birth by metabolic products may explain the progressive cellular immunodeficiency.

In a patient with childhood dermatomyositis, high toxoplasma antibodies were found at the time of diagnosis. A direct immunofluorescence technique demonstrated active toxoplasmosis in the muscle biopsy. The response to treatment and follow-up in this patient suggest that toxoplasmosis could have caused the dermatomyositis.

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A patient with congenital ichthyosis and progressive neurologic anomalies showed disturbances in the specific humoral and cellular defense as well as the presence of atypical lymphoid cells in skin and lymph node. The latter resembled the atypical T cells found in mycosis fungoides and Sézary syndrome. The possibility of the presence of either a cutaneous T cell lymphoma or unregulated T cell stimulation leading to concurrent immunodeficiency in this patient is discussed.