COMPLETE DIGEORGE-SYNDROME - PERSISTENCE OF PROFOUND IMMUNODEFICIENCY

Objective: DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands, and thymus. The objective of this s tudy was to determine whether T-cell function spontaneously improves i n patients with DiGeorge syndrome who have profoundly depressed T-cell proliferative responses to mitogens at presentation, regardless of th e T-cell count. Study design: We conducted a retrospective chart revie w of eight patients with DiGeorge syndrome who had no proliferative re sponses to mitogens on presentation. Results: Despite lack of responsi veness of the patients' peripheral blood lymphocytes to mitogens, T ce lls were occasionally detected, and the patients' cells often responde d to IL-2 and in mixed lymphocyte reactions. Unresponsiveness to mitog ens and clinical immunodeficiency persisted without immune-based thera py One patient is alive and well after immunoreconstitution from thymi c transplantation. The others either died early of complications of th eir disease such as gastroesophageal reflux with aspiration (2 patient s) or infection (2 patients) or died after attempts at immunorestorati ve therapy with IL-2, thymus transplantation, or bone marrow transplan tation (3 patients). Conclusion: Eight patients with DiGeorge syndrome who were first seen T with no mitogen responsiveness did not improve spontaneously. We recommend HLA-identical bone marrow transplantation or thymic transplantation for these patients as soon as the diagnosis is confirmed.