Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.23/562
Título: A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus
Autor: Milili, M
Antunes, H
Blanco-Betancourt, C
Nogueiras, A
Santos, E
Vasconcelos, J
Castro e Melo, J
Schiff, C
Palavras-chave: Agamaglobulinemia
Deleção Cromossómica
Genes de Imunoglobulinas
Glicoproteínas de Membrana
Data: 2002
Editora: Springer
Citação: Eur J Pediatr. 2002;161(9):479-84
Resumo: Males with X-linked agammaglobulinaemia (XLA) due to mutations in the Bruton tyrosine kinase gene constitute the major group of congenital hypogammaglobulinaemia with absence of peripheral B cells. In these cases, blockages between the pro-B and pre-B cell stage in the bone marrow are found. The remaining male and female cases clinically similar to XLA represent a genotypically heterogeneous group of diseases. In these patients, various autosomal recessive disorders have been identified such as mutations affecting IGHM, CD79A, IGLL1 genes involved in the composition of the pre-B cell receptor (pre-BCR) or the BLNK gene implicated in pre-BCR signal transduction. In this paper, we report on a young female patient characterised by a severe non-XLA agammaglobulinaemia that represents a new case of Igmu defect. We show that the B cell blockage at the pro-B to pre-B cell transition is due to a large homologous deletion in the IGH locus encompassing the IGHM gene leading to the inability to form a functional pre-BCR. The deletion extends from the beginning of the diversity (D) region to the IGHG2 gene, with all JH segments and IGHM, IGHD, IGHG3 and IGHG1 genes missing. CONCLUSION: alteration in Igmu expression seems to be relatively frequent and could account for most of the reported cases of autosomal recessive agammaglobulinaemia.
Peer review: yes
URI: http://hdl.handle.net/10400.23/562
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