Cartilage - hair hypoplasia syndrome : immunological evaluation of two cases

PURPOSE--Immunological evaluation of patients with cartilage-hair hypoplasia. TYPE--Prospective and retrospective studies. PLACE--Division of Allergy, Clinical Immunology and Rheumatology-Dept. of Pediatrics-"Escola Paulista de Medicina". PATIENTS--Two children with cartilage-hair hypoplasia syndrome. METHODS--Clinical and immunological evaluation. Humoral immunity (immunoglobulin levels, poliovirus antibodies, etc.) and T cell immunity (in vitro cultured lymphocytes stimulated with PHA, Con A and PWN, total T cell and subset determination) were studied. RESULTS--Cellular immunodeficiency and hypogammaglobulinemia were observed in one patient and normal values in the other. CONCLUSIONS--Immunological evaluation (cellular and humoral) should be performed in all patients with cartilage-hair hypoplasia.