EVIDENCE FOR DEFECTIVE IMMUNOREGULATION IN THE SYNDROME OF FAMILIAL CANDIDIASIS ENDOCRINOPATHY

We studied three children with candidiasis endocrinopathy syndrome, together with their parents and five siblings, to explore the possibility that defective immunoregulation allows autoimmune phenomena to be involved in the pathogenesis of this syndrome. Inheritance of the syndrome appeared to be autosomal recessive. Immunologic abnormalities in this family included hypergammaglobulinemia, selective IgA deficiency, anergy, autoimmune endocrinopathies and active chronic hepatitis. Defective suppressor T-cell function was noted in the two surviving children with clinically apparent disease and in a clinically normal sibling. Analysis of the immunologic abnormalities in the family suggests that defective immunoregulation rather than disordered effector mechanisms may explain the large number of immunologic defects noted. These defects, in turn, may result in the clinical manifestation of the syndrome. (N Engl J Med 300:164–168, 1979) THE association of chronic mucocutaneous candidiasis with hypofunction of one or more endocrine organs is referred to as the syndrome of candidiasis endocrinopathy. A case reported in 19291 featured candidiasis and hypoparathyroidism, which, together with adrenal insufficiency, were noted in 1956.2 Subsequent reports have documented the association of a wide spectrum of endocrine and non-endocrine organ dysfunction with chronic mucocutaneous candidiasis.3 4 5 6 7 8 9 The genetic pattern of inheritance and the pathogenetic mechanisms involved have not been established, but most speculations have focused on an immunologic defect.3,10 11 12 13 14 15 16 Detailed investigations of the immune and endocrine functions of a family, three of whose members had. © 1979, Massachusetts Medical Society. All rights reserved.