Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome)

Clin Genet. 1993 Mar;43(3):146-9. doi: 10.1111/j.1399-0004.1993.tb04440.x.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / immunology*
  • Adolescent
  • Adult
  • Child, Preschool
  • Cleft Palate / genetics
  • Cleft Palate / immunology*
  • Complement System Proteins / analysis
  • Ectodermal Dysplasia / genetics
  • Ectodermal Dysplasia / immunology*
  • Female
  • Fingers / abnormalities*
  • Granulocytes / immunology
  • Humans
  • Immunoglobulins / blood
  • Infections / etiology
  • Lacrimal Apparatus / abnormalities
  • Lymphocyte Activation
  • Lymphocyte Subsets / immunology
  • Male
  • Syndrome
  • Toes / abnormalities*

Substances

  • Immunoglobulins
  • Complement System Proteins