Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome).
Lobster-claw deformity of the extremities, clefting of the primary and secondary palate, ectodermal dysplasia, and atresia of the lacrimal system are common features of the ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). The patients often suffer from repeated infections of eyes, upper respiratory tract and urogenital system. To exclude an immunodeficiency as cause of the infectious predisposition in patients with EEC-syndrome, we screened the immunosystem in four related patients with EEC-syndrome. All patients were found to present normal immunoglobulin production, complement activity, lymphocyte-, and granulocyte function. We conclude that recurrent infections observed in the EEC-syndrome are not caused by an immunological defect, but seem to result solely from anatomical anomalies.
Department of Medicine and Infectious Diseases, Marselisborg Hospital, University of Aarhus, Denmark.
N
N
Obel
B
B
Hansen
F T
FT
Black
D000015:Abnormalities, Multiple / Q000235:genetics / Q000276:immunology*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics / Q000276:immunology*; D003165:Complement System Proteins / Q000032:analysis; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000276:immunology*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006098:Granulocytes / Q000276:immunology; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007239:Infections / Q000209:etiology; D007765:Lacrimal Apparatus / Q000002:abnormalities; D008213:Lymphocyte Activation; D016131:Lymphocyte Subsets / Q000276:immunology; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
D007136:Immunoglobulins; D003165:Complement System Proteins