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

Arch Dermatol. 1999 Aug;135(8):927-31. doi: 10.1001/archderm.135.8.927.


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 Athabascan-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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bone Marrow Transplantation
  • Female
  • Genital Diseases, Female / epidemiology*
  • Genital Diseases, Female / etiology
  • Genital Diseases, Male / epidemiology*
  • Genital Diseases, Male / etiology
  • Humans
  • Indians, North American / statistics & numerical data*
  • Infant
  • Infant, Newborn
  • Male
  • Oral Ulcer / epidemiology*
  • Oral Ulcer / etiology
  • Retrospective Studies
  • Severe Combined Immunodeficiency / complications*
  • Severe Combined Immunodeficiency / therapy
  • Ulcer / epidemiology*
  • Ulcer / etiology
  • United States