[Progressive combined immunity defect with ectomesodermal dysplasia (author's transl)].
A boy with dysplastic features had to be treated for recurrent diarrhoea and bronchitis since his tenth month of life. Defects in humoral and cellular immunity were found. The ecto-mesodermal abnormalities are so characteristic that in connection with the immunological changes it seems to be justified to assume a yet undescribed syndrome.
D000917:Antibody Formation; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000276:immunology*; D006680:HLA Antigens / Q000302:isolation & purification; D006801:Humans; D007111:Immunity, Cellular; D007073:Immunoglobulin E / Q000302:isolation & purification; D007153:Immunologic Deficiency Syndromes / Q000209:etiology* / Q000235:genetics; D008213:Lymphocyte Activation; D008297:Male; D010375:Pedigree
D006680:HLA Antigens; D007073:Immunoglobulin E
Progressiver kombinierter Immundefekt mit ekto-mesodermaler Dysplasie.