Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases.
OBJECTIVE
Immunological evaluation of patients with cartilage-hair hypoplasia. TYPE: Prospective and retrospective studies.


METHODS
Division of Allergy, Clinical Immunology and Rheumatology-Dept. of Pediatrics-"Escola Paulista de Medicina".


METHODS
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.
Solé
D
D
Department of Pediatrics, Escola Paulista de Medicina, São Paulo, Brasil.
Leser
P G
PG
Soares
D
D
Naspitz
C K
CK
D000917:Antibody Formation; D002648:Child; D004392:Dwarfism / Q000276:immunology*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007111:Immunity, Cellular; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D007223:Infant; D008297:Male; D011446:Prospective Studies; D012189:Retrospective Studies