RESUMO
CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.
Assuntos
Anormalidades Múltiplas/imunologia , Atresia das Cóanas/imunologia , Leucócitos Mononucleares/transplante , Linfócitos T/imunologia , DNA Helicases/imunologia , Proteínas de Ligação a DNA/imunologia , Evolução Fatal , Humanos , Recém-Nascido , Contagem de Linfócitos , Masculino , Análise de Sequência de DNA , SíndromeRESUMO
Immune deficiency can be part of CHARGE syndrome but often receives only limited attention. We present two patients with CHARGE syndrome confirmed CHD7 mutations who had severe T-cell deficiency, and review 15 CHARGE patients from the literature with immunological problems. Most of them had severe T-cell deficiency, although the spectrum also included mild T-cell deficiency and isolated humoral immune deficiency. We conclude that immunodeficiency can form an important symptom in CHARGE syndrome although the frequency and exact nature are still insufficiently known. We propose to evaluate immune functions in all CHARGE syndrome patients, to estimate the frequency and nature of the accompanying immunodeficiency, and to obtain better data regarding prognosis and management.
Assuntos
Anormalidades Múltiplas/imunologia , Anormalidades Múltiplas/genética , Atresia das Cóanas/genética , Atresia das Cóanas/imunologia , Códon sem Sentido , Coloboma/genética , Coloboma/imunologia , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Transtornos do Crescimento/genética , Transtornos do Crescimento/imunologia , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/imunologia , Humanos , Recém-Nascido , Masculino , Fenótipo , Síndrome , Linfócitos T/imunologiaRESUMO
A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life. She presented with repeated otitis. At 3 yr of age, the patient suffered a septicemia (Streptococcus pneumoniae, Corynebacterium sp.). The immunoglobulin G (IgG) and IgA serum levels were decreased, IgM increased and cellular immunity parameters were normal, supporting the diagnosis of hyper-IgM (HIM) syndrome. The sequence of CD40 ligand and cytidine deaminase genes were normal. From then on, she was receiving immunoglobulin intravenously with an excellent outcome. Here, we report the first case of CHARGE association and HIM syndrome in the same patient. Although the cause could not be identified, a non-random link is likely.
