Oral and genital ulceration -: A unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency

Background: Oral and genital ulcerations have been previously reported in 3 Navajo children diagnosed with severe combined immunodeficiency disease with T- and B-cell lymphopenia (T-B--SCID). Objective: To evaluate the occurrence of oral and genital ulcerations in 12 Athabascan-speaking American Indians with a diagnosis of T-B--SCID (SCIDA group) and to compare their occurrence in non-Athabascan-speaking children with SCID (control group). We also observed the course of these ulcerations in response to bone marrow transplantation (BMT). Design: Retrospective survey of the medical records of patients with SCID admitted from December 1, 1986, through July 31, 1995. Setting: Pediatric Bone Marrow Transplantation Division at a university hospital. Patients: Twelve children in the SCIDA group and 21 in the control group. All patients had virtual absence of T- and B-cell numbers and function at time of diagnosis. Results: Oral and/or genital ulcers developed as a presenting feature of the SCIDA group. These ulcerations were not observed in the 21 controls. All patients underwent BMT. Of the 10 patients with oral and/or genital ulcerations, 3 had poor T-cell reconstitution after BMT, with recurrences of ulcers requiring additional BMTs. Conclusions: Oral and/or genital ulcerations are common in Athabastan-speaking American Indian children with T-B--SCID but are not seen in non-Athabascan-speaking children with SCID. Thus, oral and/or genital ulceration appears to be an important, distinctive finding, and often a presenting feature of immunodeficiency in Athabascan-speaking American Indian children with SCID. Bone marrow transplantation with successful T-cell engraftment appears to be curative in the resolution of the ulcers, with recurrences only in patients who had poor T-cell reconstitution.