INDICATION OF PRIMARY IMMUNE DEFICIENCY IN FANCONI'S ANEMIA

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Abstract
A girl with various congenital malformations developed pancytopenia and hypoplastic bone marrow at the age of 6 yr. A chromosome study of lymphocytes showed numerous breaks, gaps and rearrangements, allowing the diagnosis of Fancoli''s anemia. Treatment with corticosteroids and splenectomy did not result in hematologic remission. Repeated immunologic studies showed increasingly deficient T [thymus-derived] cell function as judged by lymphocyte transformation studies and skin test reactivity, whereas T cell number, T/B[bone marrow-derived] cell ratio, immunoglobulins, complement factors and neutrophil function were normal. A severe Pneumocystis carinii pneumonitis developed, but was successfully treated with pentamidine, sulfametoxazole with trimetoprim and transfer factor. Improvement of T cell function followed transfer factor therapy. Combined therapy with corticosteroids and androgens caused partial remission of the hematologic abnormalities. The probability of a primary immune deficiency in the patient is discussed.