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Normal immunological status in four patients with ectrodactyly‐ectodermal dysplasia‐clefting syndrome (EEC‐syndrome)
Author(s) -
Obel Niels,
Hansen Birte,
Black Finn Trunk
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04440.x
Subject(s) - ectrodactyly , ectodermal dysplasia , medicine , primary immunodeficiency , genitourinary system , immunodeficiency , dermatology , anatomy , immunology , immune system
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.