RESUMO
The most prevalent primary immunodeficiency is common variable immunodeficiency (CVID). Mutations have been described in four genes, ICOS, CD19, BAFF-R and TNFRSF13B (encoding TACI), together associated with 10-15% of CVID cases. We investigated a family with CVID and identified the heterozygous C104R TNFRSF13B mutation in two of the three index-children with CVID, a mother with selective immunoglobulin A deficiency, a mother with recurrent infections and a healthy grandfather. Remarkably, we did not find the TNFRSF13B mutation in the third index-child with CVID, despite his hypogammaglobulinaemia and decreased response to unconjugated pneumococcal vaccine. This family illustrates that TNFRSF13B mutations induce disease susceptibility rather than cause disease directly. Apparently, other genetic or environmental factors, still to be identified, contributed to the development of CVID in this family. Consequently, TNFRSF13B mutations must be interpreted with caution in the clinical setting.
Assuntos
Imunodeficiência de Variável Comum/genética , Mutação , Proteína Transmembrana Ativadora e Interagente do CAML/genética , Adulto , Idoso , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/imunologia , Feminino , Predisposição Genética para Doença , Humanos , Imunofenotipagem , Subpopulações de Linfócitos/imunologia , Masculino , LinhagemRESUMO
A 5-month-old male neonate presented with a bulging fontanel due to benign external hydrocephalus.