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Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases
1Department of Pediatrics, Escola Paulista de Medicina, São Paulo, Brasil.
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.