RESUMO
Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency. For this reason, we propose IGF-1 replacement therapy for its well-known actions on hematopoiesis, immune function and maturation, and metabolism. © 2016 Wiley Periodicals, Inc.
Assuntos
Estudos de Associação Genética , Cabelo/anormalidades , Doença de Hirschsprung/diagnóstico , Doença de Hirschsprung/genética , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Fator de Crescimento Insulin-Like I/genética , Osteocondrodisplasias/congênito , Fenótipo , Adolescente , Biomarcadores , Testes Genéticos , Genótipo , Humanos , Fator de Crescimento Insulin-Like I/deficiência , Janus Quinase 2/genética , Masculino , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Exame Físico , Polimorfismo de Nucleotídeo Único , Doenças da Imunodeficiência Primária , RadiografiaRESUMO
UNLABELLED: Several studies have shown that some liver transplant recipients may tolerate immunosuppression withdrawal. Mechanisms and biomarkers of tolerance are not well known. METHODS: Twenty-four LT patients with immunosuppression side-effects underwent progressive immunosuppression withdrawal. Peripheral lymphocyte populations and secretion of cytokines were analyzed at baseline and during withdrawal until tolerance (n = 15) or rejection (n = 9), as well as 3 months after tolerance achievement or rejection resolution (as follow-up). Immunological markers were compared among groups. RESULTS: The percentages of CD3+CD4+ cells progressively decreased in both groups. CD3+CD8+ cells gradually increased in tolerant patients. B lymphocytes gradually decreased in tolerant and initially in non-tolerant patients, reverting at rejection. Regulatory T cells progressively increased until rejection in non-tolerants, decreasing to basal levels after renewing immunosuppression; no significant changes were found in tolerant patients. The percentages and absolute counts of natural killer cells significantly increased in both groups, being more evident in tolerant patients. The secretion of several cytokines was higher in non-tolerant patients when rejection was diagnosed. CONCLUSIONS: The greater increase of natural killer cells in tolerant patients suggests their potential role in the tolerance phenomenon.
