Study of the BTK (Brutons Tyrosine Kinase) in patients with congenital agammaglobulinemia. / Estudo do gene btk (brutons tyrosine quinase) em pacientes com agamaglobulinemia congênita

AUTOR(ES)
DATA DE PUBLICAÇÃO

2008

RESUMO

X-linked Agammaglobulinemia (XLA) is a primary immunodeficiency characterized by the absence or decreased numbers of mature B cells in peripheral blood, and by a lack of all immunoglobulin isotypes, leading to an increased susceptibility to severe bacterial and enteroviral infections. XLA is caused by mutations in the gene encoding for Brutons tyrosine kinase (BTK), a protein member of the Tec family of cytoplasmic tyrosine kinases and plays a vital modulation role in many cellular processes. In this study thirty-three patients were analyzed for the presence of BTK mutations by SSCP/HA and sequencing. The expression analysis was carried out by the technique of Real-Time PCR. It was found mutations of the stop codons type, amino acid substitutions, splice defects, small deletions/insertions and frameshift in these patients affecting the PH, SH3, SH2 and tyrosine kinase domains of protein. The expression levels were very low in the patients with stop codon mutations, and in the other mutations, the expression levels were about 15% and were correlated with the mutation types.

ASSUNTO(S)

humoral immunity imunidade humoral primary immunodeficiency b cell btk mutação btk mutation lymphocyte células b imunodeficeiência primária agamaglobulinemia agamaglobulinemia linfócitos

ACESSO AO ARTIGO

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