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

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.

• Authors: N Obel, B Hansen, F T Black
• Journal: Clinical genetics (Clin Genet) Vol. 43 Issue 3 Pg. 146-9 (Mar 1993) ISSN: 0009-9163 [Print] Denmark
• PMID: 8500261 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Immunoglobulins
• Complement System Proteins

Topics

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