RESUMEN
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.
Asunto(s)
Enanismo/inmunología , Cabello/anomalías , Síndromes de Inmunodeficiencia/diagnóstico , Formación de Anticuerpos , Niño , Humanos , Inmunidad Celular , Lactante , Masculino , Estudios Prospectivos , Estudios RetrospectivosRESUMEN
On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.
Asunto(s)
Enfermedades del Desarrollo Óseo/complicaciones , Enanismo/complicaciones , Fallo Renal Crónico/complicaciones , Trastornos de la Pigmentación/complicaciones , Antígenos CD/análisis , Enfermedades Autoinmunes/congénito , Enfermedades Autoinmunes/genética , Enfermedades Autoinmunes/inmunología , Enfermedades del Desarrollo Óseo/genética , Enfermedades del Desarrollo Óseo/inmunología , Huesos/patología , Niño , Preescolar , Enanismo/genética , Enanismo/inmunología , Femenino , Humanos , Fallo Renal Crónico/genética , Fallo Renal Crónico/inmunología , Recuento de Leucocitos , Masculino , Trastornos de la Pigmentación/genética , Trastornos de la Pigmentación/inmunología , Linfocitos T/inmunología , Linfocitos T/fisiologíaRESUMEN
Patients previously described with cartilage-hair hypoplasia, a distinctive form of short-limbed dwarfism, have been found to have deficient cell-mediated immunity with intact antibody-mediated immunity. The patient with cartilage-hair hypoplasia described in the present report is unusual in that she had both deficient antibody-mediated immunity and deficient cell-mediated immunity. In addition, she developed severe, vaccine-related paralytic poliomyelitis. This complication suggests that live viral vaccines should not be administered to children with short-limbed dwarfism until the form of short-limbed dwarfism is established and immunologic evaluation is performed when indicated.