1. ¹Division of Immunology and Allergy, The Hospital for Sick Children, Toronto, Ontario, Canada
2. ²The University of Toronto, Toronto, Ontario, Canada
3. ³The Canadian Centre for Primary Immunodeficiency, Toronto, Ontario, Canada
4. ⁴The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, Ontario, Canada

Correspondence: Dr CM Roifman, Division of Immunology and Allergy, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8. E-mail: chaim.roifman@sickkids.ca

Received 10 July 2006; Revised 7 September 2006; Accepted 16 September 2006; Published online 16 October 2006.

Abstract

The association of cartilage hair hypoplasia (CHH) with severe combined immunodeficiency (SCID) has been known for more than three decades. Bone marrow transplantation (BMT) remains the only effective treatment that might cure SCID. Surprisingly little has been reported on the experience with BMT in CHH. We report here survival and long-term reconstitution of immunity after BMT in three patients with CHH. Regardless of whether a related human leukocyte antigen-matched or unrelated matched donors were used as the source of BMT, all patients are alive and well 5–20 years after BMT. Engraftment appears robust with most cells of donors origin. Repeated evaluation of the immune system showed normal cellular and humoral immunity. Our results should encourage the use of BMT in patients with CHH who have profound immunodeficiency.